Livedo Reticularis With Perineural and Intraneural Mucin Deposition in a Child With AT-III Deficiency: A Case Suggestive of Neuropathia Mucinosa Cutanea?

INTRODUCTION

Cutaneous mucinoses comprise a heterogeneous group of disorders characterized by abnormal mucin deposition. Neuropathia mucinosa cutanea (NMC) is an exceedingly rare entity, defined by hypertrophic dermal nerves containing mucin within and around the perineurium. Its pathogenesis and nosologic status remain uncertain.

CASE REPORT: We report the case of a 15-year-old Romanian girl with severe antithrombin III (AT-III) deficiency and systemic thromboses, who presented with acute ischemic stroke and later developed livedo reticularis and acral discoloration. Skin biopsy of a toe revealed hypertrophic dermal nerve bundles with prominent Alcian blue-positive mucin deposits both inside and around nerve fascicles, consistent with NMC. Immunohistochemistry showed intact Schwann cell architecture.

CONCLUSIONS

This case expands the spectrum of intraneural mucin deposition by associating it with severe AT-III deficiency. Although fulfilling the morphologic description of NMC, the findings could also reflect a reactive change to ischemic nerve injury rather than a primary mucinous neuropathy. Further reports integrating clinical and histopathologic data are needed to clarify whether NMC represents a unique neurocutaneous disorder or a nonspecific reactive phenomenon.