Hyperkeratosis lenticularis perstans
Incidence and prevalence of HLP are difficult to assess given the limited number of cases reported in the literature, which may in part be due to its asymptomatic nature. While some reported cases are sporadic, many are familial. Mutations in the SPTLC1 gene have been found in affected individuals. SPTLC1 encodes serine palmitoyltransferase, which is the initial enzyme in the pathway responsible for sphingolipid production, and disordered sphingolipid production is responsible for the altered membrane-coating granules seen in the epidermis in this condition.
L85.9 – Epidermal thickening, unspecified
28488007 – Hyperkeratosis lenticularis perstans
Differential Diagnosis & Pitfalls