Large, linear pigmentation anomaly: an unusual dyspigmentation case

Dermatol Online J. 2022 Dec 15;28(6). doi: 10.5070/D328659729.

Abstract

Segmental pigmentation anomalies can be further divided into segmental pigmentation disorder (SPD) complex and café-au-lait macules (CALMs). Both are congenital skin conditions characterized by hyper- or hypopigmentation. Segmental pigmentation disorder is a rare entity, whereas CALMs are common skin lesions that may be associated with various genetic conditions, especially when several are present and the patient has other indicators of a genetic abnormality. When the CALM is segmental, segmental neurofibromatosis (type V) may be considered in the differential diagnosis. Herein we present a 48-year-old woman with a history of malignant melanoma who presented with a large, linear, hyperpigmented patch on her shoulder and arm, present since around birth. The differential diagnosis consisted of CALM versus hypermelanosis (a subtype of SPD). Given a family history of a similar lesion, in addition to a personal and family history of melanoma and internal cancers, a hereditary cancer panel was completed demonstrating genetic variance of uncertain significance. This case brings attention to a rare dyspigmentation disorder and questions a possible association with melanoma.

Publication types

  • Case Reports

MeSH terms

  • Cafe-au-Lait Spots / diagnosis
  • Cafe-au-Lait Spots / genetics
  • Cafe-au-Lait Spots / pathology
  • Female
  • Humans
  • Hyperpigmentation*
  • Melanoma* / complications
  • Middle Aged
  • Neurofibromatoses* / complications
  • Neurofibromatoses* / diagnosis
  • Neurofibromatosis 1* / complications
  • Pigmentation

Supplementary concepts

  • Neurofibromatosis type 5