Abstract Hunter syndrome, also known as mucopolysaccharidosis type II, is a lysosomal storage disorder characterized by iduronate-2-sulfatase (IDS) deficiency, leading to impaired degradation of mucopolysaccharides. We here report the case of a 6-year-old boy who developed several asymptomatic skin-colored raised lesions on the upper back, upper chest, and outer parts of both upper arms and legs over a duration of 3 years. In addition, he lacked both upper and lower molars, had bilateral hearing loss, restricted joint movements, and developmental delay. Numerous firm, flesh-colored papules ranging from 5 to 10 mm were seen upon cutaneous assessment. These papules merged to form a plaque over the upper back, upper chest, and outside areas of both the upper arms and thighs, giving the impression of cobblestones (pebbling of the skin). A skin biopsy showed orthokeratosis and demonstrated extensive mucin deposition around hair follicles, in the mid- and deep dermis, with widely separated collagen bundles, which are highlighted by Alcian Blue staining at pH 2.5. The child was found to have an IDS deficiency after an enzyme assay. Hunter syndrome was, therefore, identified. This case report of Hunter syndrome highlights a unique skin lesion that can aid in early diagnosis.
Abstract Rhinosporidiosis, a chronic granulomatous infection caused by Rhinosporidium seeberi , typically affects the nasal cavity and nasopharynx. Cutaneous involvement is rare and can mimic common dermatological conditions. The disease is endemic in India, Sri Lanka, South America, and Africa, often associated with agricultural work and bathing in common ponds, posing a public health problem in these regions. We report the case of a 26-year-old male with disseminated cutaneous rhinosporidiosis to highlight its manifold presentations and discuss its epidemiology, clinical features, and histopathology.
Abstract Dowling–Degos disease (DDD)/reticulate pigmented anomaly of the flexures is a rare autosomal dominant genodermatosis characterized by abnormalities of the follicular epithelium and reticulate hyperpigmentation of flexural areas. Mutations impacting keratinization pathways, such as k eratin 5 , p rotein O-fucosyltransferase 1 , and protein O-glucosyltransferase 1 have been linked to the disorder. There is growing evidence linking DDD to follicular occlusion conditions like hidradenitis suppurativa (HS). However, it is extremely uncommon for follicular lesions in DDD to undergo malignant transformation. We describe a rare case of squamous cell carcinoma developing in an epidermal cyst in a patient who also had HS and DDD. The coexistence of these entities points to a common pathophysiologic mechanism involving aberrant epithelial proliferation and follicular occlusion. Persistent chronic inflammation within follicular structures may predispose to dysplasia and malignant transformation. Recognition of such associations is important for early diagnosis and management of suspicious lesions in patients with follicular disorders.
