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An X-linked reticulate pigmentary disorder with systemic manifestations: report of a second family
L C Adès1, M Rogers, D O Sillence
1Dermatology Department, Children's Hospital, Camperdown, New South Wales, Australia.
Abstract:
Another family manifesting an X-linked, reticulate, pigmentary dermatosis, previously familial cutaneous amyloidosis, has been observed. The disorder is characterized in males in this family by onset in the first year of recurrent episodes of respiratory illness including pneumonia, a progressive reticulate pigmentation of the skin, hypohidrosis, and photophobia. The absence of amyloid deposits in the skin in both the mother and sons confirms that less emphasis should be given to the word "amyloidosis" in naming the disorder.
Insights
A newly observed X-linked disorder causes respiratory illness, skin pigmentation, and sun sensitivity in males. The absence of amyloid confirms the condition is not familial cutaneous amyloidosis.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- A rare X-linked disorder, previously termed familial cutaneous amyloidosis, presents unique clinical features.
- The condition affects males with early-onset respiratory issues and distinctive skin changes.