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X-linked recessive ichthyosis.

Carole Hazan¹, Seth J Orlow, Julie V Schaffer

¹Department of Dermatology, New York University School of Medicine, USA.

Dermatology Online Journal

|January 13, 2006

Summary

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X-linked recessive ichthyosis (XLI) is a genetic skin disorder characterized by dry, scaling skin. Diagnosis in a young boy was confirmed by clinical presentation and family history, highlighting steroid sulfatase deficiency.

Area of Science:

Genetics
Dermatology
Biochemistry

Background:

X-linked recessive ichthyosis (XLI) is a rare genetic disorder.
It is caused by mutations in the steroid sulfatase (STS) gene located on the X chromosome.
Ichthyosis is a group of skin conditions characterized by dry, thickened, scaly skin.

Observation:

A 13-year-old male presented with lifelong, adherent, brown, polygonal scales on extensor surfaces, trunk, and neck.
A similar condition was noted in his male maternal relatives.
Clinical presentation and family history were key to diagnosis.

Findings:

The patient was diagnosed with X-linked recessive ichthyosis (XLI).
Underlying the condition is steroid sulfatase (STS) deficiency.

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Associated systemic manifestations include cryptorchidism and asymptomatic corneal opacities.

Implications:

Most XLI cases result from deletions in the STS gene.
Deletions may extend to neighboring genes, causing contiguous gene syndromes.
Understanding STS deficiency is crucial for diagnosing and managing XLI and related disorders.