Keloids: An unwanted spontaneity in Rubinstein-Taybi Syndrome

Rubinstein-Taybi syndrome (RTS) is a rare developmental disorder comprising of mental retardation, unusual facial appearance, broad thumbs, and big toes. It is frequently associated with molecular lesions in the cAMP response element binding protein. Many cutaneous abnormalities are associated with RTS. Multiple spontaneous keloids are some of them. We hereby report a case of this rare syndrome associated with keloids without any preceding trauma

Comèl–Netherton's syndrome in siblings

The syndrome is characterized by the association of two classical clinical presentations:“Trichorrhexis invaginata”, reported by Netherton and the“Ichthyosis linearis circumflexa”, described by Comel. Comèl - Netherton syndrome is an autosomal recessive disorder characterized by congenital ichthyosis linearis circumflexa, hair shaft defects, atopy, markedly elevated IgE levels and immune deficiency.1,2,3 It is caused by mutation in Spink5 gene that encodes for protein Latki, which inhibits the enzyme serine proteinase, deficiency of which leads to desquamation of horny layer.4,5 We hereby report this case in a pair of siblings who presented with Ichthyosis linearis circumflexa, trichorrhexis invaginata, pili torti and atopic features. Investigations of skin, hair and blood confirmed the clinical findings. The case is being reported for its rare and classical occurrence

Poikiloderma a varied presentation - Huriez syndrome

Huriez syndrome is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma (PPK) and hypoplastic nails. We report the case of a 25 year old male, with nonfamilial Huriez syndrome