X-linked ichthyosis in Infant/Neonate
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Synopsis
This condition is exclusively seen in males, appears before 3 months of age, and persists for life. During the first few weeks of life there is desquamation of large, loosely adherent, translucent scales followed by the development of tightly adherent, dark brown scales. The disease phenotype ranges from absent to marked and diffuse scaling. It is worse in low-humidity climates.
The disease may be diagnosed prenatally due to a low estriol on a maternal triple screen and confirmed by fluorescence in situ hybridization (FISH). Women with affected fetuses may experience lack of spontaneous labor and prolonged labor, possibly requiring cesarean delivery or vacuum-assisted delivery due to a lack of steroid sulfatase in the placenta, leading to decreased levels of estrogen and insufficient dilation of the cervix.
Codes
ICD10CM:Q80.1 – X-linked ichthyosis
SNOMEDCT:
72523005 – X-linked ichthyosis with steryl-sulfatase deficiency
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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
- Ichthyosis vulgaris – Hyperlinear palms and soles, often associated with atopy.
- Lamellar ichthyosis – Tends to affect the entire skin surface, is usually more severe, and manifests ectropion, which X-linked ichthyosis lacks.
- Eczema craquelé
- Xerosis
- Atopic dermatitis
- Allergic contact dermatitis or irritant contact dermatitis
Best Tests
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Management Pearls
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Therapy
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References
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Last Reviewed:09/22/2019
Last Updated:01/18/2022
Last Updated:01/18/2022
X-linked ichthyosis in Infant/Neonate