BACKGROUND Neonatal adrenoleucodystrophy (NALD) is a rare disorder resulting from abnormal peroxisomal biogenesis. Affected patients present in infancy with developmental delay, hypotonia, and seizures. Blindness and nystagmus are prominent features. The authors suggest a characteristic leopard spot pigmentary pattern in the peripheral retina to be diagnostic. METHODS Three patients are repor...

Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. At least seven JS loci have been determined and five g...

Dermatitis herpetiformis (DH) is a rare immunobullous disorder of the skin that is associated with gluten hypersensitivity. Subepidermal IgA-type antibody deposition against tissue transglutaminase leads to dense neutrophilic microabscess and eventually into vesicles in dermal papillae, which may occasionally merge into bullae. Being a subepidermal vesiculobullous disorder, DH is frequently ass...

BACKGROUND To review the long-term outcomes of eyes with secondary pigmentary glaucoma associated with the implantation of foldable intraocular lenses (IOL) in the ciliary sulcus. METHODS The study retrospectively reviewed a series of cases who developed secondary pigmentary glaucoma after cataract operations. Data were collected from cases that were referred between 2002 and 2011. RESULTS ...

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...

The authors had attempted to understand the pattern of Dermatosis coming to the skin OPD of Central referral Hospital, SMIMS, Gangtok. Out of 8630 Patients included in our study, 51.8% were female patients with female male ratio of 1.07:1. Majority of the patients (29.24%) was from the age group 21-30 years followed by age group of 31-40 years (18.96%). Eczema and allergic disorder constituted ...

Lichen planus pigmentosus is a pigmentary disorder of unknown etiology, with diffuse hyperpigmentation of sun-exposed areas, more commonly seen in some ethnic and racial groups. We report an unusual case of lichen planus pigmentosus in a 40-year-old man with Fizpatrick type III skin that was present in a blaschkoid distribution on the trunk, a distribution that has been rarely reported. This un...

Cockayne's syndrome (CS) is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. In cultured CS fibroblasts, the failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful and relatively simple diagnostic test. We have measured post-UV-C RNA synthesis in 52 patients for whom a clinical diagnosis...

Vitiligo is an acquired pigmentary disorder caused due to a loss of functional melanocytes. Autologous non-cultured melanocyte transfer (NCMT) recent surgical modality for the treatment stable vitiligo. To evaluate clinical outcome NCMT in patients was performed on 41 They were evaluated at 1, 4, 12, 18 and 24 weeks post-surgery extent repigmentation complications. In this study, male- female r...

Abstract Background The protein phosphatase 2 (PP2A) is one of the major serine/threonine phosphatases in humans. most frequently reported pathogenic PP2A variants have been identified PPP2R5D , encoding regulatory subunit B’ delta, and are known to cause intellectual developmental disorder autosomal dominant 35 (MRD35). Case presentation Herein, we describe a unique case patient with heterozyg...