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  #1  
Old 02-09-2012
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Kids Infant with no hair and teeth!

10 month-old male infant is brought to the emergency department on a sweltering day in June. He is listless, cranky and floppy. He has no hair or teeth. Over the past 2 weeks, he has not smiled, babbled, rolled over, sat up or attempted to stand. The mother says that both she and her son cannot tolerate heat and that she has always had thin hair and still has some baby teeth. Which oft he following skin structures is most likely to be absent or greatly decreased in number in the mother and the child?

a) Langerhans’ cells
b) Merkel’s cells
c) Pacinian corpuscle
d) Sebaceous glands
e) Sweat glands
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Old 02-09-2012
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ans ......B .....
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Old 02-09-2012
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merkel cells
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Old 02-09-2012
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I would go for B...
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Old 02-09-2012
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really? why? i have no clue.....
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Old 02-09-2012
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Merkels discs found in hair follicles ........
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Old 02-09-2012
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i know that....but is there a mutation and you have no Merkel's or is is just no hair->must have low Merkel's...
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Old 02-09-2012
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No dont know about any mutation , mostly no hair follicles no merkel's

so this is the correct ans right ??
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Old 02-10-2012
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Arrow Answer is ectodermal dysplasia

The child has ectodermal dysplasia
The correct answer is absent sweat glands (e)
You noticed that he's not sweating despite the very hot day!

For more information read here
http://emedicine.medscape.com/article/1110595-overview
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Old 02-10-2012
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hii...i guess this question comes from the 10 nbme tutorial on its website...i too wondered what the answer was since there was no key....thanks for posting...
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Old 02-10-2012
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Quote:
Originally Posted by USMLEisnoteasy View Post
The child has ectodermal dysplasia
The correct answer is absent sweat glands (e)
You noticed that he's not sweating despite the very hot day!

For more information read here
http://emedicine.medscape.com/article/1110595-overview
Thanks you!
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Old 02-10-2012
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i dont think you need to know that disease to answer this question

as long as you know that merkels is found in hair follicles (FA neuro) - you can answer this.
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Old 02-11-2012
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so whats the ans guys ........ ?????

sweat gland appears correct .... as the pt cannot tolerate heat .... but sweat glands are also found in places without hair .... ....
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Old 02-11-2012
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Dental, hair, and nail anomalies usually become evident during infancy or childhood. A family history of similar clinical features is helpful.
Ectodermal dysplasias are described as "heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, cranial-facial structure, digits and other parts of the body."

Hair


Individuals affected by an ED syndrome frequently have abnormalities of the hair follicles. Scalp and body hair may be thin, sparse, and very light in color, even though beard growth in affected males may be normal. The hair may grow very slowly or sporadically and it may be excessively fragile, curly, or even twisted.

Nails


Fingernails and toenails may be thick, abnormally shaped, discolored, ridged, slow-growing, or brittle. The cuticles may be prone to infections.

Skin

The skin may be lightly pigmented. Skin sustaining injury may grow back permanently hypo-pigmented. In some cases, red or brown pigmentation may be present. Skin can be prone to rashes or infections and can be thick over the palms and soles. Care must be taken to prevent cracking, bleeding, and infection.

Sweat glands

Individuals affected by certain ED syndromes cannot perspire. Their sweat glands may function abnormally or may not have developed at all because of inactive proteins in the sweat glands. Without normal sweat production, the body cannot regulate temperature properly. Therefore, overheating is a common problem, especially during hot weather. Access to cool environments is important.

Teeth

In the development of tooth buds frequently result in congenitally absent teeth (in many cases a lack of a permanent set) and/or in the growth of teeth that are peg-shaped or pointed. The enamel may also be defective

Last edited by Novobiocin; 02-11-2012 at 09:02 AM.
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