A 6-year-old boy presented with abnormal habitus since birth, delayed language development, history of frequent falls since 9 months, and fever since 1 week. He was found to have hyperandrogenic features, generalized paucity of fat, generalized muscular overdevelopment, and brownish pigmentation over the flexural creases. Skin biopsy demonstrated features suggestive of acanthosis nigricans with...

ZinsserCole-Engman syndrome, also known as dyskeratosis congenita, is a rare genetic disorder characterized by triad of pigmentation and atrophy of the skin, leukokeratoses of oral mucosa and nail dystrophy along with bone marrow failure and predisposition to cancer [1]. The condition can be inherited as autosomal recessive, autosomal dominant and rarely X linked. It is proposed that mutations ...

The Kearns-Sayre syndrome is a mitochondrial myopathy characterised by ptosis, chronic progressive external ophthalmoplegia, abnormal retinal pigmentation, and cardiac conduction defects. A unique case is reported in which there was rapid development of progressive congestive cardiac failure that required cardiac transplantation. A review of published reports of mitochondrial myopathy shows tha...

A 19-year male presented with acute onset, gradually progressive symmetric indurations involving the skin over the face, neck, shoulders and upper part of chest following an upper respiratory tract infection. Detailed history and examination did not reveal evidence of Raynauds' phenomenon, nail changes, digital ulcers, pigmentation or any systemic involvement. Autoantibodies for systemic sclero...

The Kearns-Sayre syndrome is a mitochondrial myopathy characterised by ptosis, chronic progressive external ophthalmoplegia, abnormal retinal pigmentation, and cardiac conduction defects. A unique case is reported in which there was rapid development ofprogressive congestive cardiac failure that required cardiac transplantation. A review of published reports of mitochondrial myopathy shows that...

To the Editor : Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin and hair (1). On the basis of its clinical presentation, OCA can manifest in either isolated or syndromic fashion under a variety of inheritance models (1). To date, four loci have been mapped for recessively inherited isolated OCA, and genes for all of th...

Familial progressive hyperpigmentation (FPH) is a rare genodermatosis characterized by hyperpigmented patches in the skin and mucous membranes, present in early infancy, and increase in size and number with age. The genetic basis for FPH remains unknown. We report an unusual case of familial progressive hypermelanosis in a 17-year-old male patient with family history, who presented with a pecul...

Ultraviolet radiation (UVR)-induced mortality and behavioural disorder were studied in larval northern pike of two origins and ages. Newly hatched larvae of two differently coloured populations and six-day-old larvae of one population were exposed to four fluence rates of UVR, resulting in total doses from 11.5 to 63 kJ m–2, and monitored for mortality and behaviour. The rate of mortality and t...

Griscelli syndrome is a rare disorder with hypomelanosis of skin, silvery-gray hair due to abnormal melanosomal trafficking in melanocytes. It is caused by mutations in 3 genes: MYO5A, RAB-27A, MLPH (Melanophilin) and accordingly classified into 3 subtypes: GS1, GS2 and GS3 respectively. These 3 proteins interact and together form heterotrimeric complex responsible for intracellular vesicular t...

Kohlschütter-Tönz Syndrome is a rare disorder clinically characterized by amelogenesis imperfecta, epilepsy and progressive mental deterioration. We present an additional case of this syndrome of a nine year-old boy who was referred by pigmented teeth. The mental deterioration was associated with speech delay, impulsive behavior, attention-deficit/hyperactivity disorder, and learning problems. ...