Dermatopathia pigmentosa reticularis in Adult
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Synopsis
Generalized reticulate hyperpigmentation presents at birth or develops by the age of 2. It persists throughout life without fading. Over time, there is progressive alopecia affecting the scalp, eyelashes, eyebrows, and axillae. Mild onychodystrophy may progress to include pterygium formation, also by the age of 2. Other findings include absent dermatoglyphics, a punctate keratoderma of palms and soles, and hypo- or hyperhidrosis. Nonscarring acral bullae, mucosal pigmentation (oral or bulbar conjunctiva), and darkly pigmented areolae have been reported less frequently. The disease does not cause any life-threatening complications and patients are often otherwise healthy.
DPR is caused by missense mutations in the keratin 14 protein (KRT14), which maps onto chromosome region 17q11.2-q21. The KRT14 mutations reduce the amount of functional junction proteins in keratinocytes, leading to increased apoptosis of epidermal cells in the basal layer. The consequent decreased structural integrity of ectodermal tissues is hypothesized to cause skin and nail abnormalities such as blistering, adermatoglyphia, and nail dystrophy. The cause of hyperpigmentation in the condition is less clear, but is suspected to be either melanosome trafficking or pigmentary incontinence from increased keratinocyte apoptosis.
Codes
ICD10CM:Q82.9 – Congenital malformation of skin, unspecified
SNOMEDCT:
239088003 – Dermatopathia pigmentosa reticularis
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Differential Diagnosis & Pitfalls
The differential diagnosis for DPR includes the conditions below, which can be differentiated by their pattern of pigmentary distribution, histopathology, leukokeratosis, onset and duration of pigmentation, and associated symptoms.- Naegeli-Franceschetti-Jadassohn syndrome (NFJS) – Also caused by a genetic mutation in KRT14 but includes enamel defects and no diffuse nonscarring alopecia.
- Dowling-Degos disease – Reticulate pigmentation presents in adults, often in the body's folds.
- X-linked reticulate pigmentary disorder – Look for dermal amyloid deposits on histopathology.
- Congenital diffuse mottling of the skin
- Reticular acropigmentation of Kitamura
- Dyskeratosis congenita
- Acromelanosis progressiva
- Epidermolysis bullosa simplex
- Dyschromatosis symmetrica hereditaria (DSH)
- Heterochromia extremitarium
- Dyschromatosis universalis hereditaria
- Erythrokeratodermia variabilis
- Incontinentia pigmenti
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Last Reviewed:09/24/2017
Last Updated:10/11/2017
Last Updated:10/11/2017
Dermatopathia pigmentosa reticularis in Adult