Dermatopathia Pigmentosa Reticularis with Addisonian Pigmentation: Atypical Presentation of a Rare Case

Area of Science:

• Genetics and developmental biology
• Dermatology
• Rare diseases

Background:

• Dermatopathia pigmentosa reticularis (DPR) is an extremely rare genodermatosis characterized by ectodermal dysplasia.
• It typically manifests as a reticulate (net-like) mottled hyperpigmentation of the skin.

Observation:

• A 15-year-old male presented with a complex pigmentary disorder.
• The patient exhibited both reticulate and diffuse patterns of skin pigmentation.
• Notably, the patient also had adermatoglyphia, the absence of fingerprint patterns.

Findings:

• This case expands the phenotypic spectrum of Dermatopathia pigmentosa reticularis.
• The co-occurrence of variable pigmentary anomalies (reticulate and diffuse) and adermatoglyphia in DPR is documented.
• This presentation suggests potential variability in ectodermal dysplasia manifestations.

Implications:

• Further research into the genetic underpinnings of DPR is warranted.
• Understanding the variable expressivity of DPR can aid in diagnosis and genetic counseling.
• This case underscores the importance of thorough dermatological and genetic evaluation in patients with rare ectodermal dysplasias.