Abstract Hereditary sensory and autonomic neuropathies (HSAN) are a diverse group of diseases involving the peripheral nervous system. Patients present with profound distal sensory loss and variable degrees of autonomic disturbances. Multiple subtypes have been defined based on clinical symptoms and genetic testing. We present a case report of a nine month-old female with recurrent hand lesions and an absent response to noxious stimuli who was ultimately diagnosed with HSAN. A review of the literature and discussion of the pathogenetic mechanisms, current treatment, and future therapies for HSAN are also provided. Introduction Hereditary Sensory and Autonomic Neuropathies (HSAN) comprise a heterogeneous group of disorders involving the peripheral nervous system. The first description of these conditions was made in 1852 with a report of three brothers with neurotrophic plantar ulcers HSANs can be broadly subdivided based on mode of inheritance into autosomal dominant forms, with either juvenile or adultonset, and autosomal recessive forms with congenital or early childhood onset Case Report A nine month-old female was brought in to the Emergency Department for evaluation of rapidly progressive skin lesions on the hands and a small resolving vesicular lesion on the tip of the tongue. The patient's mother reported first noticing a small, red bump on the left thumb that grew and turned black over the course of one day. Small blisters were also noted on other fingers. Aside from these lesions, the patient's mother reported no other symptoms. The patient was born full-term and had met gross motor milestones. Physical examination revealed a 2 x 1 cm black, well-demarcated eschar on the volar surface of the left thumb ( Initial differential diagnosis included herpetic whitlow with associated Herpes Simplex Virus (HSV) infection, gingivostomatitis, ecthyma, bullous impetigo, pyoderma gangrenosum, vasculitis, spider bite, or anthrax. The patient was placed in isolation and started on intravenous antibiotics and acyclovir empirically. A HSV/varicella zoster virus direct fluorescent antibody test was performed on the Journal of Clinical & Medical Case Reports Case Report Open Acces
