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A 10-month-old male infant is brought to the emergency department on a sweltering day in June. He is listless, cranky, and "floppy as a dishrag". 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 of the following skin structures is most likely to be absent or greatly decreaed in number in the mother and the child?
A- langerhan's cells
b- merkel's cells
c - pacinian
d- sebaceous
e- sweat glands
I don't have the answer but I presume D or E? What is this disease?
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Is it E?--Cystic fibrosis, as decreased sweat glands and intolerance to heat in infancy?Not sure.
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E..
cystic fibrosis .I THINK NOT SURE....typical intolerence to heat in first year life.
extreme cases- manifest as shock,typical description of leathry skin,dry,listless,
hairloss-chronic malnutrition due to pancreatic insuffiency,may be associated liver fibrosis .
infants -failure to thrive-delayed all milestones
decreased no of sweat glands - I think functionally these glands are decreased as they are blocked by thick secreation-anatomically whether their number is decreased-I am not sure
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ok I think it may be E.
I did a search for 'absence of sweat glands' on google. And I receive a result of ECTODERMAL DYSPLASIA
Symptoms -heat intolerance -underdeveloped/absent teeth -fine lightly pigemented hair -absence of sweat glands
although there are lots of other symptoms listed too.
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Kashmala - I think there was a discussion on this forum before - it is anhidrotic ectodermal dysplasia which I think is X linked - so from Mom to son is possible.
Less than normal number of teeth - more conical in shape ,Delayed or absent tooth formation ,Inability to sweat
Absent tears (occasional) ,Thin skin ,Decreased skin pigment ,Poor temperature regulation
Heat intolerance ,Scanty hair ,Absent hair ,Abnormal nails .
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Ectodermal dysplasia is a hereditary condition characterized by abnormal development of the skin and associated structures (hair, nails and teeth, and sweat glands).
Absent or decreased sweating in people with anhidrotic ectodermal dysplasia is caused by absence of sweat glands. Affected children have difficulty controlling fevers and mild illness may produce extremely high fevers, because of absent temperature regulation by sweating.
Mucus membrane involvement results in chronic nasal infections with foul-smelling discharge and increased respiratory infections. Hair may be absent or very scanty. The skin is thin with light pigmentation. Teeth develop abnormally and many teeth are missing.
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