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Dermatopathia Pigmentosa Reticularis
Adrija Datta1, Nidhi Gupta1, Samiksha Pradhan1
1Department of Dermatology, Medical College, Kolkata, West Bengal, India.
Indian Journal of Dermatology
|April 16, 2019
Summary
Dermatopathia pigmentosa reticularis, a rare ectodermal dysplasia, involves skin, hair, and nail abnormalities. This case highlights the characteristic triad plus anhidrosis and palmoplantar keratoderma in a young male.
Area of Science:
- Dermatology
- Genetics
- Rare Diseases
Background:
- Dermatopathia pigmentosa reticularis (DPR) is a rare ectodermal dysplasia.
- It is characterized by a specific triad of symptoms.
- This condition affects ectodermal structures.
Observation:
- A 23-year-old male presented with symptoms consistent with DPR.
- The patient exhibited the hallmark features of reticulate hyperpigmentation, alopecia, and nail dystrophy.
- Additional findings included anhidrosis (inability to sweat) and palmoplantar keratoderma (thickening of skin on palms and soles).
Findings:
- The case confirms the classic triad presentation of Dermatopathia pigmentosa reticularis.
- The co-occurrence of anhidrosis and palmoplantar keratoderma expands the known clinical spectrum of DPR.
- This presentation provides valuable data on the phenotypic variability of this rare ectodermal dysplasia.
Implications:
- This case underscores the importance of recognizing the full spectrum of ectodermal dysplasia symptoms.
- Accurate diagnosis of rare conditions like DPR is crucial for genetic counseling and patient management.
- Further research into the genetic underpinnings of DPR may reveal new therapeutic targets.
