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Spot the diagnosis

Discussion in 'Spot Diagnosis' started by neo_star, Nov 13, 2012.

  1. neo_star

    neo_star Moderator

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    Spot the diagnosis

    [​IMG]

    This child has a rare congenital condition and in addition to what you see in the picture, has high spiking temperatures and very sparse hair on his body including scalp.

    Can you identify the condition ?

    Clue - the high fevers in this condition are not secondary to an autonomic nervous system problem.


    (-:
     

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  2. imran

    imran Young Member

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    congenital syphilis
     

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  3. imran

    imran Young Member

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    hutchingtons teeth
     

  4. neo_star

    neo_star Moderator

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    good try...but u won't get chronic high spiking fevers and let me tell u his condition is incurable and he is close to 2 years old. The best place on the planet for him is the north pole.
     

  5. Xerxles

    Xerxles Well-Known Member

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    maybe its Taurodontia,,, but never heard of fever with that ??????
     

  6. dupuytren

    dupuytren Bronze Member

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    hutchinson teeth--> congenital syphilis
     

  7. neo_star

    neo_star Moderator

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    Another Hint : This child is born without sweat glands or very few of them...now try
     

  8. neo_star

    neo_star Moderator

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    I think I will spare u guys the torture, since this is a rare condition. Yes peg shaped teeth r seen in Cong. Syphylis, and also in Incontinentia pigmenti and in Taurodontia ( seen mostly in Mongol race ), but not the associated temp. regulation problems.

    This specific condition is called - Hypohidrotic-Ectodermal-Dysplasia

    Now I have seen this condition on tv and so I know a bit of detail. The child that was shown on the programme, spend most of the day in a tub of water ( since the place that he belonged to was very hot and arid ) and would hav very high temp. A news reporter reported his plight and thus it came to the notice of some doctors who offered help. He was brought to a city hospital where some really smart guys put their heads to it and diagnosed the condition. He was provided with a cooling vest, which he had to wear whole day. There were talks about a Canadian family ( since cold weather is betters suited for hom) who wanted to adopt him, bur i hav since lost track of the case.


    There is an even worse form of the condition called - Anhidrortic Ectodermal dysplasia.


    Some details from Genetics Home Reference about these 2 related conditions

    What is hypohidrotic ectodermal dysplasia?

    Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands.

    Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. Sweating is a major way that the body controls its temperature; as sweat evaporates from the skin, it cools the body. An inability to sweat can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather. In some cases, hyperthermia can cause life-threatening medical problems.
    Affected individuals tend to have sparse scalp and body hair (hypotrichosis). The hair is often light-colored, brittle, and slow-growing. This condition is also characterized by absent teeth (hypodontia) or teeth that are malformed. The teeth that are present are frequently small and pointed.

    Hypohidrotic ectodermal dysplasia is associated with distinctive facial features including a prominent forehead, thick lips, and a flattened bridge of the nose. Additional features of this condition include thin, wrinkled, and dark-colored skin around the eyes; chronic skin problems such as eczema; and a bad-smelling discharge from the nose (ozena).


    What genes are related to hypohidrotic ectodermal dysplasia?


    Mutations in the EDA, EDAR, and EDARADD genes cause hypohidrotic ectodermal dysplasia.

    The EDA, EDAR, and EDARADD genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers, the ectoderm and the mesoderm. In the early embryo, these cell layers form the basis for many of the body's organs and tissues. Ectoderm-mesoderm interactions are essential for the formation of several structures that arise from the ectoderm, including the skin, hair, nails, teeth, and sweat glands.

    Mutations in the EDA, EDAR, or EDARADD gene prevent normal interactions between the ectoderm and the mesoderm and impair the normal development of hair, sweat glands, and teeth. The improper formation of these ectodermal structures leads to the characteristic features of hypohidrotic ectodermal dysplasia.


    How do people inherit hypohidrotic ectodermal dysplasia?


    Hypohidrotic ectodermal dysplasia has several different inheritance patterns. Most cases are caused by mutations in the EDA gene, which are inherited in an X-linked recessive pattern.


    xxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxx

    Xtra Edge


    Another condition which relates to impaired sweat gland cooling mechanism is - Milaria ( it comes in many flavors / severities ).


    Miliaria can be classified according to the top level at which obstruction occurs in the sweat glands.

    Miliaria crystalline

    The most superficial obstruction (with the most mild clinical presentation), is known as miliaria crystalline; instead of a rash the patient presents with multiple tiny blister-like lesions that look like beads of perspiration and essentially cause no symptoms.



    Miliaria rubra

    The most commonly encountered form of the illness is miliaria rubra, in which obstruction causes leakage of sweat into the deeper layers of the epidermis, provoking a local inflammatory reaction giving rise to the typical appearance of redness (hence rubra) and larger (but still only a few millimetres) blister-like lesions. This form of the illness is often accompanied by the typical symptoms - intense itching or "pins and needles" with a lack of sweating (anhidrosis) to affected areas. There is a small risk of heat exhaustion due to inability to sweat if the rash affects a large proportion of the body's surface area or the sufferer continues to engage in heat-producing activity.



    Miliaria profunda

    The most severe form of miliaria, miliaria profunda, sometimes referred to as "wildfire" due to the rapid spread and severe burning sensations, generally occurs as a complication of repeated episodes of miliaria rubra. The obstruction is located deep in the structure of the sweat gland, causing the gland's secretions to leak between the superficial and deep layers of the skin. The rash, and associated symptoms, tend to break out within hours of an activity provoking sweating but similarly fade within hours when the stimulus for the sweating is removed. The rash tends to be flesh-coloured as opposed to the prominent redness of miliaria rubra, and the risk of heat exhaustion is larger.

    ref - Wiki

    Now Milaria profunda althogh bad is not as bad as Hypohidrotic-Ectodermal-Dysplasia. The condition is only associated with intense physical activity and does not have the other epidermal problems ass with the condition in our spot diagnosis.


    Another condition with impaired cooling is a lysosomal storage disease called - ?????? find it out and put the ans below. The first person to do so gets rep points from me.

    Hint - it's a X-linked recessive disease and causes a wide range of systemic symptoms, one of which is autonomic dysregulation leading to impaired sweating, becos of nerve fibers supplying it.


    Now if u become anxious while finding the ans and start developing itchy rashes mainly on ur trunk and hands, then u hav - Cholinergic Urticaria. This condition also to some extend is seen more commonly with impaired sweating, but is more so due to abnormal histamine release in response to a varitey of triggers like stress, exercise, hot weather, spicy food etc. Seems more like a cousin of 'Migraine' wink)
     

    Last edited: Nov 14, 2012
  9. Xerxles

    Xerxles Well-Known Member

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    It maybe fabry's disease due defect of the enzyme alpha galactosidase (therefore glycosphingolipids accumulate in the Autonomic nervous system causing functional dysregulation).
     

  10. neo_star

    neo_star Moderator

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    And we have our winner !!!
     

  11. Gospodin Seki

    Gospodin Seki Moderator Staff Member

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    @neo_star great info about Hypohidrotic Ectodermal Dysplasia,and thank you for this usefull post! :) i would just suggest you to use one colour when you're writing a long text :)
     

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  12. dr.angela

    dr.angela Bronze Member

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  13. dr.angela

    dr.angela Bronze Member

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