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Reticulate pigmented anomaly of flexures
Other Resources UpToDate PubMed

Reticulate pigmented anomaly of flexures

Contributors: Reba Suri MD, Chris G. Adigun MD, Susan Burgin MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

Synopsis

Reticulate pigmented anomaly of the flexures, also known as Dowling-Degos disease (DDD) or Dowling-Degos syndrome, is a rare autosomal dominant pigmentary disorder characterized by progressive brown-black hyperpigmentation of the flexures that first appears in adolescence or adulthood. Pigmentation typically arises in the axillae, neck, and inframammary areas. Affected individuals may also have pitted acneiform scars in a perioral distribution. Other associations that are commonly seen include soft fibromas, follicular hyperkeratoses, and comedonal and cystic lesions in the flexural areas. Squamous cell carcinoma of the buttocks and perianal areas has been reported. The condition is thought to be secondary to mutations in KRT5 (keratin 5), POGLUT1 (protein O-glucosyltransferase 1), POFUT1 (protein O-fucosyltransferase 1), and PSENEN (presenilin enhancer protein 2). Mutations in KRT5 result in disruption of melanosome transfer. POGLUT1 and POFUT1 play an important role in the Notch signaling pathway involved in the regulation of keratinocyte and melanocyte proliferation and differentiation. Heterozygous mutations of PSENEN, which also affect the Notch signaling pathway, has been associated with hidradenitis suppurativa and a variant of DDD with lesions confined to the scrotum.

There is a slight female predominance, and all races are affected equally.

Codes

ICD10CM:
L81.8 – Other specified disorders of pigmentation

SNOMEDCT:
239054009 – Reticulate pigmented anomaly of flexures

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Confluent and reticulated papillomatosis (Gougerot-Carteaud syndrome)
  • Galli-Galli disease – Considered by some to be on the same disease spectrum as DDD or an acantholytic variant of DDD. It is also autosomal dominant associated with loss-of-function mutation in KRT5. Clinically it appears identical to DDD but can be differentiated by the presence of acantholysis on histology.
  • Reticulate acropigmentation of Dohi (dyschromatosis symmetrica hereditaria) – Presents as hyperpigmented and hypopigmented macules scattered along the dorsal surface of the distal extremities. In contrast to DDD, onset of this condition is typically in childhood. Epidermal atrophy and elongation of the rete ridges are not seen in this condition, helping differentiate it from DDD on histology.
  • Acropigmentation reticularis of Kitamura – Also autosomal dominant, but there is an earlier age of onset and predilection of lesions on acral sites, which can help differentiate this condition from DDD.
  • Granular parakeratosis
  • Acanthosis nigricans
  • Dermatopathia pigmentosa reticularis
  • Haber syndrome – Presents with comedones, pitted scarring, hyperkeratotic follicular papules, hyperpigmented macules, and facial erythema and telangiectasias. It can be differentiated from DDD by the presence of facial erythema resembling that seen in rosacea.

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:10/06/2021
Last Updated:01/23/2022
Copyright © 2022 VisualDx®. All rights reserved.
Reticulate pigmented anomaly of flexures
A medical illustration showing key findings of Reticulate pigmented anomaly of flexures : Axilla, Brown color, Flexural distribution, Hyperpigmented patch, Inframammary fold of chest, Lateral neck, Reticular - netlike, Superior chest, Hyperpigmented macules
Clinical image of Reticulate pigmented anomaly of flexures - imageId=2722751. Click to open in gallery.  caption: 'Multiple light brown macules on the lateral neck.'
Multiple light brown macules on the lateral neck.
Copyright © 2022 VisualDx®. All rights reserved.