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X-linked ichthyosis

**X-linked ichthyosis**
*Classification & external resources*
ICD-10	Q80.1
ICD-9	757.1
OMIM	308100
DiseasesDB	29136
eMedicine	derm/191
MeSH	D016114

X-linked ichthyosis is an inborn error of metabolism characterized by a deficiency in microsomal sulfatase (steroid sulfatase). It is also referred to as placental sulfatase deficiency.

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The genetic locus for the steroid sulfatase gene has been mapped to the distal short arm of the x chromosome (Xp22.32). Affected individuals, usually male, develop ichthyosis in the form of hyperkeratosis after birth, sometimes associated with pyloric stenosis, cryptorchism, or corneal opacities.

Prenatally, the condition affects placental estrogen production, as precursor steroids from the male fetus are not fully utilized due to difficulty in removing their sulfate group. Estriol levels during pregnancy are low. Pregnancies may be complicated by an inability to go into spontaneous labor.

References

Jöbsis AC, De Groot WP, Tigges AJ, et al (1980). "X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations". Am. J. Pathol. 99 (2): 279-89. PMID 6929654.

v • d • e Congenital malformations and deformations of integument (Q80-Q84, 757)
Congenital ichthyosis	Ichthyosis vulgaris - X-linked ichthyosis - Ichthyosis lamellaris - Epidermolytic hyperkeratosis - Harlequin type ichthyosis - Netherton's syndrome
Epidermolysis bullosa	Epidermolysis bullosa simplex - Epidermolysis bullosa dystrophica
Other, of skin	Hereditary lymphedema - Xeroderma pigmentosum - Mastocytosis - Urticaria pigmentosa - Incontinentia pigmenti - Ectodermal dysplasia - Port-wine stain - Cutis laxa - Darier's disease - Bloom syndrome - Pseudoxanthoma elasticum
Of breast	Accessory breast - Supernumerary nipple
Other, of integument	Monilethrix
see also non-congenital (L, 680-709)