Clinico-pathological Spectrum of Rare Skin Syndromes and Diseases: A Series of Five Cases

Abstract

A significant threat to patients’ well-being, mental health, capacity to function, and social participation- a measure of disability- is posed by skin diseases, resulting in significant mortality and morbidity worldwide. Despite the fact that the majority of rare diseases are complex, disabling, and life-threatening, little knowledge has been gained in this area. The diagnosis and classification of these rare skin syndromes with pre-determined sets of symptoms present a challenge. To diagnose a rare skin syndrome, one frequently has to correlate histologic findings with clinical symptoms, as there is a vast range of skin disorders, many of whose histologic traits overlap with just slight variances. However, histologic knowledge alone makes it difficult to diagnose these; proper diagnosis demands appropriate clinical knowledge. In the present study institute, 675 skin biopsies were performed over the course of five years, from 2018 to 2022. Based on clinico-pathological analysis, various rare skin syndromes were diagnosed, as depicted in present case series of five cases (10 years old boy, 40 years old male, 27 years old male, 44 years old male, 52 years old male patients) for: a) Griscelli Syndrome; b) Gougerot-Carteaud Syndrome, considered rare as it is one of the underdiagnosed and misdiagnosed syndromes due to its similarity with Pityriasis versicolour; c) Kyrle’s disease, a rare perforating dermatosis occurring in 10% of chronic renal failure patients who are on dialysis; d) Nekam’s disease; e) Sweet syndrome, an uncommon syndrome occurring in about 10-20% of malignancies.

Keywords

• griscelli syndrome type 3
• kyrle’s disease
• sweet syndrome
• rare disease