X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation.

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Article

X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2005

Mégarbané H, Boehm N, Chouery E, Bernard R, Salem N, Halaby E, Levy N, Mégarbané A

Abstract excerpt

We report a boy, born to healthy first cousin parents, with diffuse hyperpigmentation of the skin and guttate hypomelanotic lesions, photophobia, abnormal hair, developmental delay, and recurrent bronchitis. Skin histology showed pigmentation incontinence with numerous melanophages. Electron microscopy showed a very high number of melanosomes and some degenerating keratinocytes. These features correspond to a...

Topics

Adult
Alleles
Biopsy
Chromosomes, Human, X
Dosage Compensation, Genetic
Genetic Linkage
Humans
Hyperpigmentation
Hypopigmentation
Infant
Male
Melanosomes
Microscopy, Electron
Molecular Biology
Mothers
Photophobia
Polymerase Chain Reaction
Reticulin

Source

Open in PubMed

Identifiers

PMID: 15844784

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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