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Items: 4

1.

Placental sulfatase deficiency

sex linked inherited disease characterized by excessive scaling [from CHV]

MedGen UID:
404049
Concept ID:
C2720163
Disease or Syndrome
2.

Deficiency of steryl-sulfatase

MedGen UID:
403441
Concept ID:
C2717836
Disease or Syndrome
3.

Ichthyosis, X-Linked, Complicated

MedGen UID:
383170
Concept ID:
C2677713
Disease or Syndrome
4.

X-linked ichthyosis with steryl-sulfatase deficiency

X-linked ichthyosis is clinically characterized by widespread, dark brown, polygonal scales and generalized dryness. Cutaneous manifestations are present soon after birth and usually do not improve with age. The histopathology of XLI typically shows compact hyperkeratosis and slight acanthosis with a normal granular layer (summary by Takeichi and Akiyama, 2016). X-linked ichthyosis is fundamentally the same disorder as placental steroid sulfatase deficiency, which is often first noted in the pregnant mother of affected males by decreased estrogen or delayed progression of parturition (Alperin and Shapiro, 1997). This is thus an example of affinity ('lumping') of phenotypes thought previously to be separate, the opposite of genetic heterogeneity. Schnyder (1970) gave a useful classification of the inherited ichthyoses. Hernandez-Martin et al. (1999) provided a comprehensive review of X-linked ichthyosis. They pointed out that among all genetic disorders X-linked ichthyosis shows one of the highest ratios of chromosomal deletions; complete deletion has been found in up to 90% of patients. Takeichi and Akiyama (2016) reviewed inherited nonsyndromic forms of ichthyosis. [from OMIM]

MedGen UID:
86937
Concept ID:
C0079588
Disease or Syndrome
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