X‐linked Reticulate Pigmentary Disorder with Systemic Manifestations: Report of a Third Family and Literature Review

Abstract

Three siblings, two boys and one girl, presented with pigmentary abnormalities. The brothers, ages 11 and 6 years, had diffuse reticulate macular hyperpigmentation with onset in early childhood. In addition, these boys had hypohydrosis, coarse hair with an upswept frontal hairline, failure to thrive, and chronic pulmonary disease. The older boy also had corneal dystrophy and marked photophobia. A punch biopsy specimen from the 11-year-old showed melanophages and necrotic keratinocytes. Stains for amyloid were negative. The sister, age 2 years, had congenital linear hyperpigmented patches involving the intertrigenous areas, but was otherwise normal. The clinical findings of these children were consistent with X-linked reticulate pigmentary disorder with systemic manifestations. We present a summary of the clinical manifestations of this rare disorder and discuss efforts to identify the causative gene.

Disorders of pigmentation

“…750 No amyloid has been present, other than in the original report. Occasional apoptotic keratinocytes are also present.…”

“…750 The gene maps to Xp21 near the dystrophin locus. 750 The gene maps to Xp21 near the dystrophin locus.…”

X‐Linked reticulate pigmentary disorder in a female patient

“…as a previously unrecognized X‐linked cutaneous amyloidosis. As it is inherited in an X‐linked pattern, it shows greater severity in males, often causing death 1–3 . Clinically, it manifests with only linear hyperpigmented patches, following Blaschko's lines, in females.…”

“…in 1993. Recently, two other families have been described: one in 2005 by Anderson et al 3 . and another in 2008 by Fernandez‐Guarino et al 4 .…”

Histoproteomic Characterization of Localized Cutaneous Amyloidosis in X-Linked Reticulate Pigmentary Disorder

“…Given that many patients require transplantation [2], dermatologists should consider graft versus host disease (GVHD) during a differential diagnosis. In XLRPD, histology essentially reveals the presence of amyloid deposits that are mainly localized within the dermoepidermal junction of adult patients, leading to the hypothesis that this is an age-related condition [3,4,5]. In their report, Pezzani et al [2] described a case of genetically confirmed XLRPD in which no dermopathological symptoms were present at diagnosis.…”