Palmer Freckling as a New Clinical Marker: Clinico-epidemiological Study of 26 Cases of Neurofibromatosis Type-1

Abstract

Introduction: Neurofibromatosis Type 1 (NF-1) is an autosomal dominant genodermatosis characterised by Café Au lait Macules (CALMs), multiple neurofibromas, iris Lisch nodules, axillary and inguinal freckling and bony abnormalities. Axillary and inguinal freckling has been considered under the major criteria for diagnosis, however we found unusually high occurrence of hitherto under-reported patterns of freckling in our patients. Aim: To study the patterns of freckling in patients with NF-1. Materials and Methods: A total of 26 consecutive patients presenting with features of NF-1 to the dermatology OPD of a tertiary care centre of eastern India were examined for various features of NF-1 including the presence of freckling in various parts of the body. Results: Out of 26 patients in this cross-sectional observational study, 76.92% patients had axillary freckling or inguinal freckling or both; whereas 88.46% patients had palmer freckling. Conclusion: The unconventional patterns of freckling like palmer and facial freckling may be occurring at a higher frequency than reported and in some scenarios, may be more than the established criteria like axillary freckling.

Keywords

• axillary freckling
• genodermatosis
• melanosis
• pigmentation
• von recklinghausen disease