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Familial dyskeratotic comedones: A rare entity
Raghu Ram Maddala1, Ashok Ghorpade1, Mercy Polavarpu1
1Department of DVL, Jawahar Lal Nehru Hospital and Research Centre, Bhilai, Chhattisgarh, India.
Indian Dermatology Online Journal
|March 9, 2016
Summary
Familial dyskeratotic comedones is a rare inherited skin disorder. This report details a family from India exhibiting its characteristic hyperkeratotic papules and comedones.
Area of Science:
- Dermatology
- Genetics
- Histopathology
Background:
- Familial dyskeratotic comedones (FDC) is a rare inherited disorder.
- FDC presents with distinctive clinical and histopathological features.
- The condition is known to be refractory to treatment.
Observation:
- This study reports on a family from central India with FDC.
- Clinical presentation includes numerous, discrete, disseminated, hyperkeratotic papules and comedones.
- Histopathology reveals crater-like invaginations filled with keratin and dyskeratosis.
Findings:
- The report documents a rare inherited disorder, familial dyskeratotic comedones.
- Characteristic clinical and histopathological findings of FDC are described.
- A family from central India with this rare condition is presented.
Implications:
- This case report expands the geographical documentation of familial dyskeratotic comedones.
- Understanding the presentation in diverse populations aids in diagnosis.
- Further research may elucidate genetic factors and potential therapeutic targets for FDC.
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