No abstract

H syndrome (OMIM 602782) is a very rare autosomal recessive genodermatosis with multisystem involvement. Hallmarks of this disorder are juvenile onset and progressive, hyperpigmented, hypertrichotic lesions with histiocytic infiltration. Associated systemic manifestations form a long list, and there is high variability between patients. In some patients, dysmorphic and other systemic features may be so subtle that the disorder may readily be mistaken as an acquired skin disease and treated as such. Herein, we report a novel homozygous c.1339G>A (p.Glu447Lys) mutation in the SLC29A3 gene in a patient with skin-dominant presentation of H syndrome. Additionally, due to the present case, double superior vena cava can be added to the list of possible cardiovascular manifestations of H syndrome.

Laser is the most efficient and popular method in hair removal. The most common side effects of laser assisted hair removal are pain, erythema, edema, hypopigmentation, hyperpigmentation, blistering, crusting, erosions, purpura, folliculitis, and scar formation ( 1 ). Herein, for the first time we describe a case of lichen sclerosus (LS) following hair removal with long pulsed 1064 nm Nd:YAG laser therapy.

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst. These clinical findings were compatible with the diagnosis of NBCCS, and a novel mutation, c.1249delC; p.Gln417Lysfs*15, was found in PTCH1 causing a premature stop codon.

Hypopyon sign in dermatoscopy of cutaneous angiosarcomaAngiosarcoma is a rare malignant vascular tumour which constitutes 1.6% of cutaneous soft tissue sarcomas. 1 Cutaneous angiosarcoma occurs in three settings: idiopathic (classical) angiosarcoma of the face, scalp, and neck, angiosarcoma associated with chronic lymphoedema (Stewart-Treves syndrome) and postirradiation angiosarcoma. Herein, we report clinical and dermatoscopic features of three histopathologically-confirmed cases: a classical case, a case secondary to lymphoedema-and radiotherapyassociated and lastly primary lymphoedema-associated cutaneous angiosarcoma.