Two siblings, a 19-year-old woman and an 18-year-old man, born to apparently normal parents of second-degree consanguineous marriage, presented to the Department of Dermatology, Sawai Man Singh Medical College Hospital, Jaipur, India, with recurrent skin ulcers of the hands and feet since early childhood. The ulcers were spontaneous, slow to heal, and caused deformities. On initial examination, they were found to have distal sensory loss, predominantly to pain and temperature. The patients were diagnosed with hereditary sensory and autonomic neuropathy of ulceromutilating type (Type 2) based on clinical evidences, nerve studies, and neuropathology. Although clinical features were distinct, due to slow progression of the disease and lack of clinical suspicion, diagnosis was delayed until adulthood when complications developed leading to deformities. Through this report, the authors intend to familiarize readers with this rare disease that can present with trophic ulcers.
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