X-linked reticulate pigmentary disorder
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Synopsis
Affected males present during early childhood with diffuse reticulate (netlike) hyperpigmentation, interspersed with hypopigmented macules. These pigmentary changes are usually not present at birth, but rather initially develop as hypopigmented macules affecting the flexures. These asymptomatic spots may then spread to involve the face, trunk, and extremities, after which hyperpigmented macules arise within the hypopigmented areas. Extracutaneous manifestations in male patients include unique facial features of upswept frontal hairline and arched eyebrows, photophobia due to corneal opacification, hypohidrosis, recurrent respiratory infection with resultant pulmonary fibrosis, gastrointestinal inflammation, urethral strictures, nephrolithiasis, seizures, and developmental delay.
In contrast, female carriers of XLRPD exhibit only cutaneous involvement with the development of patchy hyperpigmentation along the lines of Blaschko during early childhood. There are no known systemic manifestations.
Codes
ICD10CM:L81.8 – Other specified disorders of pigmentation
SNOMEDCT:
717224002 – X-linked reticulate pigmentary disorder with systemic manifestation syndrome
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Differential Diagnosis & Pitfalls
Other genetic reticulate pigmentary disorders:- Dyschromatosis universalis hereditaria – Skin lesions may be clinically indistinguishable from XLRPD, but there is usually no systemic involvement and inheritance is autosomal.
- Dyschromatosis symmetrica hereditaria (acropigmentation of Dohi) – Acral and facial hypo- and hyperpigmented macules develop in infancy or early childhood leading to a mottled appearance of affected skin.
- Dermatopathia pigmentosa reticularis – Reticulate pigmentation tends to be localized and is associated with nonscarring alopecia, onychodystrophy, palmoplantar keratoderma, and adermatoglyphia.
- Naegeli-Franceschetti-Jadassohn syndrome – Autosomal dominant ectodermal dysplasia characterized by reticulate hyperpigmentation, hypohidrosis, keratoderma, and absence of dermatoglyphics. Allelic to dermatopathia pigmentosa reticularis.
- Reticulate pigmented anomaly of the flexures (Dowling-Degos disease) – Brown-black hyperpigmentation classically affects the flexures with onset in adolescence or early adulthood.
- Dyskeratosis congenita – Classic triad of reticulate pigmentation of upper chest and neck, dysplastic nails, and oral leucoplakia. Predisposition for hematologic malignancies.
- Reticulate acropigmentation of Kitamura – Reticulate pigmentation of the dorsal hands and feet with palmoplantar pitting.
- Amyloidosis cutis dyschromia – Similar cutaneous and histopathologic findings without facial features or systemic involvement.
- Idiopathic guttate hypomelanosis – Diffuse hypopigmented macules that typically present in older individuals in chronically sun-exposed skin.
- Incontinentia pigmenti – Stage 3 (after 6 months of age), which manifests as streaky pigmentary changes along the lines of Blaschko, is typically preceded by vesicular and verrucous stages.
- Hypomelanosis of Ito – Lesions are hypopigmented and may be associated with birth defects.
- Linear and whorled nevoid hypermelanosis – These hyperpigmented patches that follow the lines of Blaschko are usually present at birth and may be associated with neurologic complications.
- Progressive cribriform and zosteriform hyperpigmentation – Pigmentary lesions are localized to specific dermatomes typically of the lower torso and legs.
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Last Reviewed:02/08/2018
Last Updated:01/18/2022
Last Updated:01/18/2022
X-linked reticulate pigmentary disorder