Ice Cream Headache or Sphenopalatine Ganglioneuralgia

Sphenopalatine Ganglioneuralgia (nerve pain of the sphenopalatine ganglion).

 A migraine triggered by eating cold foods (oropharyngeal irritation due to cold foods), the ingestion of which may cause bi-frontal headaches in Patients with migraines. Also known as brain freeze, cold-rush, cold-stimulus headache particularly following quick consumption of cold beverages or foods such as ice cream and ice pops.

(Picture credit ; visualize us)

The term "ice-cream headache" has been in use since 31 January 1937, contained in a journal entry by Rebecca Timbres
The first published use of the term "brain freeze", as it pertains to cold-induced headaches, was on 27 May 1991

And although you may feel pain, it's not dangerous and doesn't mean that anything is wrong in your body.
The ice cream headache passes quickly with a lovely rush of pain-killing endorphins cancelling out the pain.
   

  Symptoms

• Sharp, stabbing pain in the forehead

• Pain that peaks about 30 to 60 seconds after it begins

• Pain that rarely lasts longer than five minutes

 Classification
The International Classification of Headache Disorders (ICHD) code is 13.11.2 and International Statistical Classification of Diseases and Related Health Problems ICD-10NA code is G44.8021, "Headache attributed to ingestion or inhalation of a cold stimulus".

Risk Factors;
Ice cream headaches can affect anyone. But you may be more susceptible to ice cream headaches or have more-severe ice cream headaches if you're prone to migraines. The headaches may also be more common among people with a history of head injuries.
 

Cause
Theory 1
   When something cold touches the roof of your mouth (palate), the sudden temperature change of the tissue stimulates nerves to cause rapid dilation and swelling of blood vessels. This is an attempt to direct blood to the area and warm it back up. The dilation of the blood vessels triggers pain receptors, which release pain-causing prostaglandins, increase sensitivity to further pain, and produce inflammation while sending signals through the trigeminal nerve to alert the brain to the problem. Because the trigeminal nerve also senses facial pain, the brain interprets the pain signal as coming from the forehead. This is called 'referred pain' since the cause of the pain is in a different location from where you feel it. Brain freeze typically hits about 10 seconds after chilling your palate and lasts about half a minute. Only a third of people experience brain freeze from eating something cold, though most people are susceptible to a related headache from sudden exposure to a very cold climate.

An ice cream headache is the direct result of the rapid cooling and rewarming of the capillaries in the sinuses. A similar but painless blood vessel response causes the face to appear "flushed" after being outside on a cold day. In both instances, the cold temperature causes the capillaries in the sinuses to constrict and then experience extreme rebound dilation as they warm up again.

Theory 2
  The research, carried out in part by Harvard Medical School, used trans-cranial Doppler imaging to study blood flow in the brains of patients while they had ice cream headaches or brain freeze induced using iced water. They also performed the experiment with normal water as a control.

The results, which are being presented at the Experimental Biology 2012 conference, show that brain freeze is accompanied by a rapid dilation of the anterior cerebral artery, which floods the brain with blood and in turn causes pain. When the vessel constricts, patients report that the pain disappears. The researchers speculate that it's a form of self-defense for the brain:

    "The brain is one of the relatively important organs in the body, and it needs to be working all the time,... It's fairly sensitive to temperature, so vasodilation might be moving warm blood inside tissue to make sure the brain stays warm."
  

Brain Freeze (Picture credit; chemistry about)

They also explain that, because the skull is rigid, an increase in blood volume in the brain causes an increase in pressure, which is what induces the pain.

The researchers point out that similar blood flow alterations could be behind migraines and other types of headaches. If that's the case, targeting headaches with drugs that can specifically affect dilation of blood vessels could bring a lot of relief to an awful lot of people.

Prevention
• Slow down. Eating or drinking cold food slowly allows one's mouth to get used to the temperature.

• Hold cold food or drink in the front part of your mouth and allow it to warm up before swallowing.

• Head north. Brain freeze requires a warm ambient temperature to occur, so it's almost impossible for it to happen if you're already cold.



 

Treatment
It does not require any medical treatment, but relief can be gotten from one of these;
pressing the tongue against the roof of the mouth to warm the area or
tilting the head back for about 10 seconds.
drink a liquid that has a higher temperature than the substance that caused the ice cream headache.
breathing in through the mouth and out through the nose, thus passing warm air through the nasal passages.



NOTES;

1. Bird, N; MacGregor, EA; Wilkinson, MI (January 1993). "Ice cream headache—site, duration, and relationship to migraine". Headache 32 (1): 35–8.

2. "ICHD-II Abbreviated pocket version" (pdf). International Headache Society. 2004.

3. Gordon, Serena (February 2003). "The Scoop on Ice-Cream Headaches". Current Science 88 (13): 12

4. Headache Classification Subcommittee of the International Headache Society. The international classification of headache disorders: 2nd edition. Cephalalgia. 2004;24(suppl):9.

5. Jankelowitz, SK.; Zagami, AS. (Dec 2001). "Cold-stimulus headache.". Cephalalgia 21 (10): 1002.

6. Mayo Clinic | ice-cream-headaches

7. Mental floss | why do people get ice cream headaches

8. Medical News Today | articles; 244458.

9. Timbres, Harry; Timbres, Rebecca (1939). "We didn't ask Utopia: a Quaker family in Soviet Russia". Prentice Hall.

10. Wikipedia | Ice cream headache

Xeroderma pigmentosum ( XP Or Children of the Night )

Xeroderma pigmentosum, commonly known as XP Or Children of the Night
This is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight.
It is rare disorder transmitted in an autosomal recessive manner, characterized by excessive sensitivity to sunlight (photosensitivity),  pigmentary(skin colour) changes, premature skin aging, and malignant tumor development.
Formerly called DeSanctis-Cacchione syndrome.

Xeroderma Pigmentosa (Picture Credit; witbanknews.)

Was first described in 1874 by Hebra and Kaposi.

With an incidence of 1:250,000 in the United States,
                                  1:40,000 population in Japan, (roughly 6 times more common in Japanese                                                                people than in others)
                                   approximately 100 diagnosed cases in the UK.

Affects all races, and found to be more common in Japan, North Africa, and the Middle East.
Both sexes are equally affected.
Usually detected at age 1-2 years.

Cause
Caused by mutations in genes that are involved in repairing damaged DNA. DNA can be damaged by UV rays from the sun and by toxic chemicals such as those found in cigarette smoke. Normal cells are usually able to fix DNA damage before it causes problems.
However, in people with xeroderma pigmentosum, DNA damage is not repaired normally. As more abnormalities form in DNA, cells malfunction and eventually become cancerous or die.
Many of the genes related to xeroderma pigmentosum are part of a DNA-repair process known as nucleotide excision repair (NER)
When nucleotide excision repair (NER) enzymes undergo mutation, it leads to reduction in or elimination of NER and if this is unchecked, results in Mutation of the individuals cell DNA following exposure to ultraviolet light.

Patients who have XP, inherited two recessive xeroderma pigmentosum genes (one from each parent); If both parents are only carriers of the xeroderma pigmentosum trait (each have one xeroderma pigmentosum gene and one normal gene), they will not show signs or symptoms of the disease. By having the two xeroderma pigmentosum genes this causes the patients to have an extreme sensitivity to UV light and as a result experience a range of signs and symptoms of xeroderma pigmentosum.

There are 7 different types/groups of XP (XP-A to XP-G)


Signs and Symptoms
A history of severe persistent sunburn can be found in many patients.
no family history is present; the parents, being heterozygotes, are healthy.

XP (Picture Credit; dermaamin.)

 The disease usually progresses through 3 stages.

1.  The first stage occurs around 6 months after birth (skin appears normal at birth) with the following signs: Areas exposed to the sun such as the face show a reddening of the skin (diffuse erythema), scaling, and freckle like areas of increased pigmentation. appearing initially on the face. With progression of the disease, the skin changes appear on the lower legs, the neck, and even the trunk in extreme cases. While these  features tend to diminish during the months with decreased sun exposure, as time passes, these findings become permanent. Irregular dark spots may also begin to appear.

     2.  Continued sun exposure will lead to the second stage, which is characterized by poikiloderma.              This is where there are irregular patches of lightened or darkened skin        
           (mottled hyperpigmentation and hypopigmentation), a spider web-like collection of blood        spots and vessels are seen through the skin (telangiectasias) , and there is  thinning of the skin (skin atrophy).

     3. The third stage is the development of actinic keratoses and skin cancers (including squamous     cell carcinomas, malignant melanoma, basal cell carcinoma, and fibrosarcoma) . These may occur as early as age 4-5 years and are more prevalent in sun-exposed areas such as the face.

The photosensitivity in Xeroderma Pigmentosa maybe acute in nature (50% of cases).

Complications

Eye (Ocular) problems occur in nearly 80% of xeroderma pigmentosum patients.

    Eyes become painfully sensitive to the sun (photophobia).
    Eyes easily irritated, bloodshot and clouded. Conjunctivitis may occur.
    Non-cancerous and cancerous growths on the eyes may occur.(Eyelid solar lentigines,malignant melanoma, Ectropion, symlepharo,vascular pterygia, fibrovascular pannus etc)

Neurological problems occur in about 20% of xeroderma pigmentosum patients.

    These can be mild or severe and include;microcephaly, spasticity, poor coordination,developmental delay, deafness, and short stature. hyporeflexia, arefleixa, ataxia, chorea, segmental demyelination, sensorineural deafness, supranuclear ophthalmoplegia, and mental retardation. The neurologic problems might overshadow the cutaneous manifestations in some patients with xeroderma pigmentosum.
    May develop in late childhood or adolescence. Once they do occur they tend to worsen over time.


Diagnosis;
An eye exam may show:
    Clouding of the cornea
    Keratitis
    Lid tumors
    Blepharitis
The following tests can help diagnose the condition in a baby before the birth:
    Amniocentesis
    Chorionic villous sampling
    Culture of amniotic cells
The following tests can help diagnose the disorder after the birth of the child:
    Culture of skin fibroblasts
    Skin biopsy

Differential Diagnosis
Acute Lupus Erythematosus
Ataxia-Telangiectasia
Bloom Syndrome
Congenital erythropoietic porphyria
Cockayne's syndrome
Fanconi anemia
Hartnup disease
LEOPARD Syndrome


Treatment
   Prevention is the most important part of treatment here.Restricting outdoor activities to night time,

Sunscreen for XP (Picture Credit; look for diagnosis.)

•    Sunscreens; Physical sunscreens (protective clothing, hats, eyewear))which scatter and reflect  radiation. They contain large particles,such as titanium dioxide, zinc oxide, red ferric oxide,  talc and kaolin .  Chemical sunscreens absorb UV radiation; PABA esters, salicylates, and cinnamates, mainly block UV-B. Broad-spectrum chemical sunscreens include a combination of ingredients designed to block both UV-B and UV-A.

•    Genetic counseling

       Support and counseling for patients and families, because of the severe lifestyle restrictions
             involved.

•     Avoid smoking, because cells from individuals with XP are also hypersensitive to environmental mutagens, such as benzo(a)pyrene found in cigarette smoke.

  Drug;

•     Vitamin D supplements may be needed, since sunlight (a major source of vitamin D) is excluded.

•     Emollients for dry skin.

•     Artificial tears for dry eyes.

•     Oral retinoids have been shown to decrease the incidence of skin cancer in patients with xeroderma pigmentosum

•     5-fluorouracil may be useful for actinic keratose

•     A new approach to photoprotection is to repair DNA damage after UV exposure. This can be accomplished by delivery of a DNA repair enzyme into the skin by means of specially engineered liposomes

•     Gene therapy for xeroderma pigmentosum is still in a theoretical and experimental stage.

Surgery;
     The malignancies associated with xeroderma pigmentosum should be completely excised.



Prognosis;
Less than 40% of individuals with the disease survive beyond the age of 20. Some XP victims with less severe cases do manage to live well into their 40s.

NOTES;
1. Alapetite C, Benoit A, Moustacchi E, Sarasin A. The comet assay as a repair test for prenatal diagnosis of Xeroderma pigmentosum and trichothiodystrophy. J Invest Dermatol. Feb 1997;108(2):154-9

2. DermaNet NZ | xeroderma pigmentosum.

2. Hoesl M, Dietz K, Rocken M, et al; Vitamin D levels of XP-patients under stringent sun-protection. Eur J Dermatol. 2010 Jul-Aug;20(4):457-60. Epub 2010 May 21

  
3. Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol. Feb 1987;123(2):241-50

4. Kraemer KH, DiGiovanna JJ, Moshell AN, Tarone RE, Peck GL. Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. N Engl J Med. Jun 23 1988;318(25):1633-7

5. Lehmann AR, McGibbon D, Stefanini M (2011). "Xeroderma pigmentosum". Orphanet J Rare Dis 6: 70. doi:10.1186/1750-1172-6-70. PMC 3221642. PMID 22044607.

6. Lim HW, Hawk JLM. Photodermatologic disorders. In: Bolognia JL, Jorizzo JL, Schaffer JV, eds. Dermatology. 3rd ed. Philadelphia, Pa: Elsevier Saunders; 2012:chap 87.

7. Medical Biochemistry at a Glance. John Wiley & Sons. 28 November 2011. ISBN 1118292405.

8. Mescape; | article 1119902

9. Nouspikel T. Nucleotide excision repair and neurological diseases. DNA Repair (Amst). Jul 1 2008;7(7):1155-67

10. Schadt C, Fine JD. Genetic disorders predisposing to skin malignancy. In: Rigel DS, Robinson JK, Ross M, et al. eds. Cancer of the Skin. 2nd ed. Philadelphia, Pa: Elsevier Saunders; 2011:chap 33

11. Wikipedia | Xeroderma Pigmentosum

Cryptic Pregnancy

Cryptic Pregnancy
Cryptic pregnancy is a condition whereby a pregnant woman is unaware of her pregnancy until labor. During this pregnancy there is little or no detectable Human chorionic Gonadotropin (hCG) in the mothers system.

Cryptic Pregnancy (Picture Credit; parents24.)

Very often, bodily symptoms of pregnancy (nausea, amenorrhea and abdomen swelling) are absent or greatly reduced, and neonates tend to be underweight; in many cases, pregnancy goes undetected also by relatives and physicians.

Cryptic pregnancy differs from to denial of pregnancy, a psychological condition, where the woman is subconsciously aware of her pregnancy, but denies its existence.

Some of these women do not know that they are indeed pregnant and some of them do know, but the medical community refuses to recognize that these pregnancies exist.

 It is estimated that about 1 in 450 pregnant women doesn't know her pregnancy status until 20 weeks/ 5months or later (more than halfway through the pregnancy), and 1 in 2,500 is unaware of her pregnancy until she actually goes into labor.


Causes

This can be medical, social or both
Medical;

• Hormonal imbalance as seen in:

           -Poly Cystic Ovarian Syndrome (PCOS).
           -Peri-menopause, which can begin as early as age 30, and go undetected.
           -Recently pregnant women whose hormones have not gone back to normal before getting pregnant again.
           -Lactating mothers whose hormones are not back to normal, before getting pregnant again.
           -Women with a very low body fat percentage, causing a hormonal imbalance, like in female athletes.
           -Women who have recently used or are currently using a birth control method such as the "Norplant", "Deprovera" Injection or the "Mirena Coil", that continually releases hormones into the body.

• Anterior Placenta; If the placenta is positioned at the front of the uterus (an anterior placenta), the baby’s movements may not be felt as plainly.

Social
    Ignorance: while most women understand that pregnancy means their periods will (probably) stop and that their bodies will change shape, not all women are well-informed enough to notice subtler signs such as breast tenderness, constipation, etc. If the woman does not gain much weight and she continues to bleed while pregnant, she may not realize she is pregnant.
    Believe: when a woman truly believes she cannot become pregnant (e.g due to her use of an IUD, or due to many years of trying without success), she can fail to correctly interpret fetal movement, and can convince herself it is just indigestion or gas.  

Signs and Symptoms Each woman has a different experience with cryptic pregnancy.

Here there may be Typical symptoms of pregnancy such as:
-Nausea/vomiting
-Fatigue
-Frequent urination
-Food aversion
-Increased appetite
-Weight gain
-Heart burn
-Back pain
-Metallic taste in mouth
-Abdominal cramping/round ligament pain
-Headaches

Atypical Symptoms such as;
-Negative urine and blood pregnancy tests
-Continued periods
-Weight loss (though this can also occur in a "standard" pregnancy)
-The pregnancy symptoms may come and go. You may not "feel" pregnant all the time. Oftentimes during the menstruation, the pregnancy symptoms will subside. As soon as the menstruation is over, the symptoms will begin again. This is a VERY strong sign of a cryptic pregnancy, especially during the first few months. 
-Early labor signs that occur off and on for weeks or even months (not preterm labor)
-An extended gestational period / pregnancy, typically of 17 months or longer   
-Slow growth of the abdomen/pregnant belly

Complications Of Cryptic Pregnancy
    -The possibility of birth defects
    -Blood type incompatibility between you and your baby
    -Hypertension
    -Preeclampsia
    -High Blood Pressure

Important Points To Note;

• In Cryptic pregnancy, ultrasound is mostly negative; showing the Uterus as normal and empty

• None of these babies have been born before 17 months and some have gone as long as 3 or 4 years. 
• Multiples are common with cryptic pregnancies
• The labor in these pregnancies are normally prodromal. This means the patient could be in labor off and on for weeks, even months. 

Diagnosis
 The use of Doppler which reads the baby's heartbeat to be at least 110 to 160 and a  Finger pulse which reads the patients heartbeat to be 80 or less,

Differential Diagnosis

• Ovarian cysts, 
• Fibroids,
• UTIs (urinary tract infection),
• PCOS (polycystic ovarian syndrome),  
• pre-mature menopause,  
• menopause,
• peri-menopause,
• phantom pregnancy

Periodic symptoms of Labor in cryptic pregnancyinclude;
Back pain- low or high
Nausea/vomiting
Headaches
Dizziness
Chills
Hot flashes
Cold sweats
Vision issues
Diarrhea
generalized body pain
pain radiating from the hips down to the legs
Sudden episodes of nausea followed by sudden intense hunger
Sudden urges to urinate;  incontinence to some extent
Palpitations
Heart burn
Over all tension and tightness in the entire torso
Metallic taste in mouth
Period type cramps- can become very intense
The entire vaginal area can ache and feel bruised
Swelling of vaginal walls- this happened because of increased blood flow to the area and can make the vagina feel tight and shorter
sharp shooting pains in the breast
Extreme thirst
Severe irritability
Sudden severe mood swings
Extreme fatigue
Severe constipation
Episodes of sudden energy or feeling uneasy
Strong Braxton Hicks contractions
Stabbing pains in the sides
Sharp pains, dull aches, pinches, tugs, pulls etc anywhere in the abdomen.
Cervical aches, pinches, burning and sharp pains that may feel like being stabbed with a needle

Some or all of this may be felt and it occurs intermittently. Some patients wake up in the middle of the night and suddenly have to push.

Once a diagnosis has been made, inform and counsel the patient.

(Picture Credit; amazing pregnancy pictures)

      




NOTES;

1  Cryptic Pregnancy Support Group |

2  Del Giudice, M. "The evolutionary biology of cryptic pregnancy: A re-appraisal of the "denied pregnancy" phenomenon.". Med Hypotheses. Retrieved 13 April 2013.

3  Jena, Pincot (8 November 2011). "How Can You Be Pregnant (For Months) And Not Know It?". Huffington Post. Retrieved 13 April 2013

4  Wikipedia | Cryptic pregnancy website

Fibrodysplasia Ossificans Progressiva (FOP) Or Stone Man Syndrome

Fibrodysplasia Ossificans Progressiva (FOP) Or Stone Man Syndrome


FOP is a disorder in which muscle tissue and connective tissue (tendons and ligaments) are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement.

It is a rare idiopathic or autosomal dominant condition of irregular penetration and pre-pubertal onset, in which connective/interstitial tissues undergo extensive fibrosis and heterotopic ossification of ligaments, tendons, muscle, fascia, aponeuroses and skin, first seen in late childhood as firm masses. The abnormal development of bone may lead to stiffness in affected areas and may also limit movement in affected joints, e.g., knees, wrists, shoulders, spine, and/or neck. It can also be called Myositis ossificans progressiva.

 Fibrodysplasia Ossificans Progressiva (Pictures Credit; reddit)

First described in 1736 by John Freke (1688–1756), an English surgeon who was instrumental in separating the profession of Surgeons from that of Barbers.

It affects about 1 in 2 million people, has no gender, ethnic, racial or geographic predilection. About 800 confirmed cases have been documented across the globe.

In Stone Man Syndrome, there is mutation of a gene in the bone morphogenetic protein (BMP) pathway, which is important during the formation of the skeleton in the embryo and the repair of the skeleton following birth.
A mutation in the gene ACVR1 (also known as activin-like kinase 2 [ALK-2]) is responsible for the disease. ACVR1 encodes activin receptor type-1, a BMP type-1 receptor.
It is believed that this mutation in ACVR1 gene may change the shape of the receptor under certain conditions and disrupt mechanisms that control the receptor's activity.

As a result, the receptor may be constantly turned on (constitutive activation). Constitutive activation of the receptor causes overgrowth of bone and cartilage and fusion of joints, resulting in the signs and symptoms of fibrodysplasia ossificans progressiva.


Risk Factors
Often precipitated by soft tissue injury or Minor trauma e.g;
  intramuscular injections,
  mandibular blocks for dental work,
  muscular stretching,
  muscle fatigue,
  blunt muscle trauma from bumps,
  bruises,
  falls
  influenza-like viral illnesses

Signs and Symptoms
    The hallmark symptom of fibrodysplasia ossificans progressiva (FOP) is a congenital malformation of a newborn's big toe. This malformations of the great toe, which is apparent at birth, presents as hallux valgus, malformed first metatarsal, and/or monophalangism.
   During the first decade of life, sporadic episodes of painful soft tissue swellings (flare-ups) occur. Though some exacerbations spontaneously regress, Episodic soft tissue injuries may lead to stiffness in affected areas, limited movement, and eventual ankylosis of affected joints (neck, shoulders, elbows, hips knees, wrists, ankles, jaw, often in that order).

    Heterotopic ossification is typically seen first in the dorsal, axial, cranial, and proximal regions of the body and later in the ventral, appendicular, caudal, and distal regions. Although the cervical spine often becomes ankylosed early in life, any minimal residual movement may eventually result in painful arthritic symptoms.

    Other skeletal anomalies commonly associated with fibrodysplasia ossificans progressiva include; short malformed thumbs, clinodactyly, short broad femoral necks, and proximal medial tibial osteochondromas. Several skeletal muscles, including the diaphragm, tongue, and extraocular muscles, are spared from fibrodysplasia ossificans progressiva. Cardiac muscle and smooth muscle are also spared from heterotopic ossification.

   The Classic Defining features of  Typical stone man syndrome are;
 Characteristic malformations of the great toe & progressive heterotopic ossification.

    Atypical fibrodysplasia ossificans progressiva patients are categorized as fibrodysplasia ossificans progressiva–plus;
  Here the Patients either present with the classic features of FOP plus one or more atypical features (e.g. intercurrent aplastic anemia, craniopharyngioma, childhood glaucoma or growth retardation) (FOP plus), or present major variations in one or both of the two classic defining features of FOP (e.g., normal great toes or severe reduction deficits of digits) (FOP variants).

Diagnosis  The diagnosis of FOP is made by clinical evaluation. Confirmatory genetic testing is available.
      serum alkaline phosphatase activity and the erythrocyte sedimentation rate may be increased, especially during disease flare-ups.
      Urinary basic fibroblast growth factor levels may be elevated during disease flare-ups.
      Plain radiographs can substantiate more subtle great toe abnormalities and the presence of heterotopic ossification   

Outbreaks may be measurable clinically by elevated levels of alkaline phosphatase and bone-specific alkaline phosphatase

Differential Diagnosis; Osseous metaplasia,
                                      myositis ossificans,
                                      extraskeletal osteosarcoma.

Treatment
Unfortunately, there is no effective treatment for fibrodysplasia ossificans progressiva. Surgery is not an option for removing the excess bones because surgery often results in more bone formation. And these new bones don't disappear on their own.

• Preventative management is based on prophylactic measures against;

        - falls (e.g. improvement in household safety, use of protective headgear),
        - respiratory decline (e.g.incentive spirometry)
        - Viral infections
        - Avoid Deep Tissue Trauma: including intramuscular (IM) injections, if possible but venipuncture, subcutaneous & intravenous meds are OK
        - Take Intubation precautions: protect jaw and get expert anesthesia assistance since the jaw & neck may be completely or partially locked
        - Consulting of expert doctors is strongly recommended regarding potential risks of any surgical or medical interventions being considered.

• A brief 4-day course of high-dose corticosteroids, started within the first 24 hours of a flare-up, may help reduce the intense inflammation and tissue edema seen in the early stages of the disease.

• Medications also are available to help relieve symptoms of FOP, such as Narcotic analgesia & Muscle relaxants

The good news is that researchers are investigating FOP and new treatments. For example, a drug is being developed that may help to control bone growth.


Complications

•  Most patients with fibrodysplasia ossificans progressiva are confined to a wheelchair by the third decade of life and require lifelong assistance in performing activities of daily living.

•     Severe weight loss may result following ankylosis of the jaw.

•     Pneumonia and right-sided heart failure are complications of rigid fixation of the chest wall.

•     The severe disability of fibrodysplasia ossificans progressiva results in low reproductive fitness.

•     Death due to complications of thoracic insufficiency syndrome.

 Fibrodysplasia Ossificans Progressiva (Pictures Credit; reddit.)

 


NOTES;


1.  Connor JM, Evans DA (1982). "Genetic aspects of fibrodysplasia ossificans progressiva". J. Med. Genet. 19 (1): 35–39. doi:10.1136/jmg.19.1.35. PMC 1048816. PMID 7069743.

2.  Fibrodysplasia ossificans profressiva","Genetics Home Reference", February 18, 2014

3.  International Fibrodysplasia Ossificans Progressiva | www.ifopa.org

4.  Medscape| http://emedicine.medscape.com/article/1007104

5.  Philosophical Transactions of the Royal Society 41 (January, 1753): pp. 369 – 370.

6.  Pignolo RJ, Foley, KL. Non-hereditary heterotopic ossification. Implications for injury, arthropathy, and aging. Clin Rev Bone Miner Metabol. 2005;3:261-266.

7.  Segen's Medical Dictionary. © 2012 Farlex, Inc.

8.  Shore EM, Xu M, Feldman GJ, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet. May 2006;38(5):525-7.

9.  The Chirurgeons Apprentice | disturbing-disorders-fop-stone-man-syndrome

10. Wikipedia| Fibrodysplasia ossificans progressiva
  

Tree Man Syndrome , Lewandowsky-Lutz dysplasia or Epidermodysplasia verruciformis (EV)

Tree Man Syndrome

Lewandowsky-Lutz dysplasia or Epidermodysplasia verruciformis (EV)
This is an extremely rare autosomal recessive hereditary skin disorder associated with a high risk of skin cancer, characterised by marked susceptibility to Human Papilloma Virus HPV (type 5, 8) infection, which in the normal population is asymptomatic, but in these patients gives rise to scaly maculopapular lesions of the hands and feet, which have been fancifully likened to tree bark.

Tree Man Syndrome (Picture Credit; documentingreality)

It was First described by Felix Lewandowsky and Wilhelm Lutz in 1922, both dermatologists.

More than 200 cases have been reported in the literature so far.
Epidermodysplasia verruciformis is universal and affects persons of all races. No sexual preference is noted for epidermodysplasia verruciformis, although sex-linked and autosomal dominant inheritance have been described.

It has an onset of between the ages of 1–20, but can be seen in all age groups including children but the largest proportion is in patients aged 25-58 years (average 39 years).


 In people with a genetic predisposition, there is a mutation of chromosome 17 occurring within two genes – EVER2 or EVER1, which leads to lowering of the immunological potential of the skin, such that it becomes easily penetrable by HPV virus up to the deep layers of the skin and there is emergence of clinical symptoms, whereas this same Virus (in favorable genetic conditions) is tolerated by the immune system.

Risk factors include;

• immunosuppression, such as HIV infection, organ transplantation, or idiopathic lymphopenia,

• profound CD8+ T-cell lymphocytopenia

• Carcinogenic cofactors (e.g ultraviolet B and x-ray irradiation) are probably involved in the progression from benign warts (verrucae) to cancer.

Signs and Symptoms;

• progressive development of hyperpigmented or hypopigmented flat wart-like papules,

• irregular reddish brown plaques,

• seborrheic keratosis-like lesions and Tinea Versicolor like macules on the trunk and sun-exposed areas (neck, face, dorsum of hands and feet).

• Thick visible warts appear all over the body as well as on the inside of the skin.

• The skin becomes thick and hardened and as old skin dies new skin is created.

• The hands and feet, the extremities, are enlarged and it is difficult to use them.

• Hands and feet have been described as looking like contorted, yellow-brown branches extending up to 3 feet.

• Skin looks like tree bark or tree roots, hence the name Tree-Man Disease or Tree-Man Syndrome

Diagnosis of Tree man syndrome is suspected when this lesions are resistant to appropriate therapy. It is based on clinical and histological findings. Skin biopsy shows verruca plana-like lesions with mild hyperkeratosis, hypergranulosis and acanthosis of the epidermis. Keratinocytes of the upper epidermal layers are enlarged with perinuclear vacuolization and a typical blue-gray pallor.

Differential diagnosis include;
squamous Cell Carcinoma
Tinea Versicolor
Warts, Nongenital

Presently,there is no definitive treatment for Lewandowsky-Lutz dysplasia, however the following approach have been beneficial;

• Preventive measures like avoiding sunlight,UV-B exposure, UV-A exposure, and x-ray irradiation.

• Drugs like topical imiquimod and 5-fluorouracil, systemic retinoids, interferon, and 5-aminolevulinic acid photodynamic therapy. In advanced human papillomavirus (HPV)–related carcinomas, an experimental therapy involves treatment with a combination of 13-cis retinoic acid and interferon alpha or cholecalciferol analogues.

• Surgical and electrosurgical removal and cryotherapy are used in the treatment of benign and premalignant skin lesions. Surgery is also indicated for treatment of malignant lesions. If skin grafting is necessary, the graft should be from sun-protected skin.

Tree man syndrome (Picture Credit; pixshark)

NOTES;

1. Anadolu R, Oskay T, Erdem C, Boyvat A, Terzi E, Gurgey E. Treatment of epidermodysplasia verruciformis with a combination of acitretin and interferon alfa-2a. J Am Acad Dermatol. Aug 2001;45(2):296-9.

2. Bhawna Bhutoria, Kaushik Shome, Sulekha Ghosh, Koushik Bose, Chhanda Datta, and Subodh Bhattacharya. "LEWANDOWSKY AND LUTZ DYSPLASIA: REPORT OF TWO CASES IN A
FAMILY". Indian J Dermatol. 2011 Mar-Apr; 56(2): 190–193.

3. Gubinelli E, Posteraro P, Cocuroccia B, Girolomoni G. Epidermodysplasia verruciformis with multiple mucosal carcinomas treated with pegylated interferon alfa and acitretin. J Dermatolog Treat. Sep 2003;14(3):184-8.

4. Gül U, Kiliç A, Gönül M, Cakmak SK, Bayis SS (October 2007). "Clinical aspects of epidermodysplasia verruciformis and review of the literature". International Journal of Dermatology 46 (10): 1069–72.

5. Hoffner MV, Camacho FM. Surgical treatment of epidermodysplasia verruciformis. Dermatol Surg. Mar 2010;36(3):363-7

6. Majewski S, Jablonska S. Epidermodysplasia verruciformis as a model of human papillomavirus-induced genetic cancer of the skin. Arch Dermatol. Nov 1995;131 (11):1312-8.

7. Medscape | article; 1131981

PROGERIA , Hutchinson-Gilford Progeria Syndrome or "HGPS"

PROGERIA

 Hutchinson-Gilford Progeria Syndrome or "HGPS"

A rare congenital childhood disorder marked by gross retardation of growth after the first year and by rapid onset of the physical changes typical of old age, usually resulting in death before age 20. Also called premature-senility syndrome


           

First Black Child With Progeria. (picture credit; cbsnews)

 The word progeria comes from the Greek words "pro", meaning "before" or "premature", and "gēras", meaning "old age"    Progeria = "prematurely old."

It was named after the doctors who first described it; Dr. Jonathan Hutchinson, 1886 and Dr. Hastings Gilford, 1897.

While there are different forms of Progeria, the classic type is Hutchinson-Gilford Progeria Syndrome.

 Approximately 140 cases have been reported in medical history. However, the Progeria Research Foundation believes there may be as many as 150 undiagnosed cases worldwide.

There is a reported incidence of Progeria of approximately 1 in every 4 to 8 million newborns. Both boys and girls run an equal risk of having Progeria. Progeria appears to affect children of all races equally.

Here there is a de novo mutation leading to autosomal dominant single base substitution in the Lamin A gene. The expression of this mutated Lamin A gene results in a truncated protein known as 'Progerin'. In HGPS there is an excessive accumulation of Progerin that is toxic to cells, causing DNA damage and genomic instability.

 When cells use this protein, called progerin, they break down more easily. Progerin builds up in many cells of kids with progeria, causing them to grow old quickly.

Progeria is not inherited, or passed down in families as children who suffer from it rarely live up to their reproductive age.
Children with progeria generally appear normal at birth.
Although they may come from varying ethnic backgrounds, children with Progeria have a surprisingly similar appearance.

signs and symptoms include;

•      A bigger head

•      Large eyes incomplete closure of the eyelids

•     A small lower jaw, thin lips and beaked nose

•     Ears that stick out

•     Slow and abnormal tooth growth, with below-average height and weight

•     Loss of body fat and muscle

•     Hair loss, including eyelashes and eyebrows

•     Narrowed face,

•     Head disproportionately large for face

•     Thinning, spotty, wrinkled skin

•     Visible veins

•     High-pitched voice

•     Hardening and tightening of skin on trunk and extremities (similar to scleroderma)

•     Some hearing loss

•     Fragile bones

•     Stiff joints

•     Hip dislocation

•     Insulin resistance

•     Severe progressive heart and blood vessel (cardiovascular) disease

Physical appearance is highly suggestive of the diagnosis and it can be confirmed through a genetic test for LMNA mutations.


Presently,there is no known cure for Progeria, though a cancer drug "farnesyltransferase inhibitors"(FTIs), is still under clinical trial and results showed significant improvements in bone structure, weight gain, and the cardiovascular system.

Treatments usually help ease or delay some of the disease's symptoms.

Drugs to lower cholesterol or prevent blood clots can be prescribed. A low dose of aspirin every day can help prevent heart attacks and stroke. Growth hormone can help build height and weight.

Physical and occupational therapy can help keep the child moving if they have stiff joints or hip problems.

First Black Child With Progeria. (picture credit; cbsnews)

Surgery; Some children may have coronary bypass surgery or angioplasty to slow the progression of heart disease.

Kids with progeria are more likely to get dehydrated, so they need to drink plenty of water, especially when they're sick or it's hot. Small meals more often can help them eat enough, too. Cushioned shoes or inserts can ease discomfort and encourage the child to play and stay active.

Those born with progeria have a live span of between 8-21 years, the average being 13 years.

There are other progeroid syndromes that run in families. These inherited syndromes cause rapid aging and shortened life span:
 1. Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, starts in the womb, with signs and symptoms of aging apparent at birth.
 2. Werner syndrome begins in the teen years or early adulthood, causing premature aging and conditions typical of old age, such as cataracts and diabetes.



NOTES:

1.  The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company.

2.  Ewell Steve Roach & Van S. Miller (2004). Neurocutaneous Disorders. Cambridge University Press. p. 150. ISBN 978-0521781534.

3.  Hennekam RC (2006). "Hutchinson-Gilford progeria syndrome: review of the phenotype". Am. J. Med. Genet. A 140 (23): 2603–24.

4.  Hutchinson J (1886). "Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six". Lancet I: 923

5.  Kwang-Jen Hsiao (1998). Advances in Clinical Chemistry:33. Academic Press. p. 10. ISBN 0-12-010333-8.

6.  MayoClinic | progeria

7.  Progeria Research Foundation 

8.  WebMD | progeria

9.  Wikipedia |  Progeria

STONE BABIES (Lithopedia)

STONE BABIES (Lithopedia)


This is a rare medical phenomenon, as at date, Only about 300 cases have been reported or documented. It Was First described by Dr Albucasis (an Arab Muslim physician and surgeon who was the first physician to describe an ectopic pregnancy, and the first physician to identify the hereditary nature of haemophilia).

Lithopedion; a fetus that has died during an ectopic pregnancy (pregnancy outside the Uterus,in this case mostly abdominal pregnancy) and has become calcified, ossified or hardened. It may remain undiagnosed for decades. Also called calcified fetus, lithopedium, ostembryon, osteopedion. Lithopedia; plural.

Lithopedion ( Picture Credit: citizenpost. )

Tends to occur in abdominal pregnancies as opposed to intrauterine pregnancies, even though it is possible for the fetus to remain within the uterus.. A tubal pregnancy can result where the fetus grows within the fallopian tube and rarely the fertilized egg will escape the end of the fallopian tube and settle within the abdomen.
Sometimes the blood supply is established and the child can grow within the abdomen, rarely to term but it can grow. It would take 12 weeks or more for the fetus to reach a size that would be easily visible.

About 1.5 and 1.8% of abdominal pregnancies develop into lithopedia.

Here,the tissues of the dead fetus are too large to be absorbed by the body, so they are walled off as foreign bodies with fibrous tissue and this most often Calcify which is where the term stone baby comes from.

The development of lithopedion happens under certain conditions:
(1) extra-uterine pregnancy;
(2) fetal death after 3 months of pregnancy;
(3) the egg must be sterile;
(4) there cannot be any early diagnosis;
(5) local conditions must exist for calcium precipitation (deposit)

Most times it occurs without symptoms (Asymptomatic) and is discovered incidentally following an Abdominal X-ray taken for some other reason, as the only symptom may be the feeling of discomfort, sensation of a mass or fullness in her abdomen.

Here the woman could have normal Menstruation, and could even become pregnant again since the uterus, ovaries, and fallopian tubes would be normal and would continue to function normally.

However, if the fetus remained within the uterus, this could interfere with future pregnancies, though not always.
It would be very similar to a woman who had large fibroids, which are muscular masses that develop with in the muscular wall of the uterus and often cause pain and abnormal bleeding. Sometimes normal pregnancies occur despite these.

Some associated complications have been reported after a long asymptomatic evolution: urinary bladder and rectum perforation; extrusion of fetal parts through the abdomen wall, rectum and vagina; intestinal obstruction (due to collision of fetal parts with the intestine or adherence), abscess formation and volvulus.

Treatment is by surgical extirpation/removal.


NOTES;

1. Costa SD, Presley J, Bastert G. Advanced abdominal pregnancy. Obstet Gynecol Surv 1991;46:515-25.

2.  Frayer CA, Hibbert ML. Abdominal pregnancy in a 67-year-old woman undetected for 37 years: a case report. J Reprod Med 1999;44:633-5. 

3.  Irick MB, Kitsos CN, O'Leary JA. Therapeutic aspects in the management of a lithopedion. Am Surg 1970;36:232-4.

4.  Mishra JM, Behera TK, Panda BK, Sarangi K; Behera; Panda; Sarangi (September 2007). "Twin lithopaedions: a rare entity". Singapore Medical Journal 48 (9): 866–8. PMID 17728971.

5.  Mosby's Medical Dictionary, 8th edition. © 2009, Elsevier.

6.  Passini, Renato; Knobel, Roxana; Parpinelli, Mary Ângela; Pereira, Belmiro Gonçalves; Amaral, Eliana; de Castro Surita, Fernanda Garanhani; de Araújo Lett, Caio Rogério (November 2000). "Calcified abdominal pregnancy with eighteen years of evolution: case report". São Paulo Medical Journal 118 (6): 192–4.

7.  Spiritos NM, Eisenkop SM, Mishell DR. Lithokelyphos: a case report and literature review. J Reprod Med 1987;32:43-6.