Dowling-Degos disease (DDD) is an unusual pigmentary disorder usually caused by mutations in keratin 5. A 44-year-old woman in good general health presented due to the recent appearance of numerous pigmented macules on her axillary and anogenital skin. A biopsy showed lacy, finger-like epidermal extensions into the dermis which were heavily pigmented and associated with tiny cysts or dilated fo...

The Kearns-Sayre syndrome is a neuromyopathic disorder associated with mitochondrial abnormalities and characterized by the triad of chronic external ophthalmoplegia, atypical pigmentary retinopathy, and progressive conduction system disorders. Ragged red muscle fibers that seem to contain an excess of altered mitochondria are observed. The disease affects both sexes alike, during the first or ...

Nomenclature This pigmentary disorder is known by different names in various literatures. They are listed out here to avoid confusion. 1. Acquired bilateral nevus of Ota-like macules (ABNOM) 3, 10-13 2. Nevus fusco-caeruleus zygomaticus 4 3. Hori's nevus 10, 12,14 4. Acquired circumscribed dermal facial melanocytosis 5. In Taiwan, it is known as 褐藍色顴痣, which is translated from ''nevus fusco-cae...

Hypopigmentary and depigmentary lesions are very commonly encountered group of dermatosis in pediatric age group. : To evaluate the epidemiology clinical characteristics various hypopigmented depigmented patient paediatric A total number 124 children between 0-18 years who presented to dermatology OPD with were assessed evaluated. In this study, most common causes disorders among Pityriasis Alb...

A long-term study of primary pigmentary dispersion has shown that the condition is commoner in males than females and appears most frequently in the third decade. After 10 years there may be a significant reduction in the amount of pigment deposited on the cornea, and the condition of several patients receiving treatment for glaucoma has remained under control when treatment has been stopped.

1-year-old girl was admitted for fever of unknown origin. Funduscopy revealed juxtapapillary retinal inflammatory mass in one eye with a differential diagnosis of sarcoidosis, tuberculosis, retinoblastoma or metastatic disease. Retinal biopsy showed necrotizing granulomatous retinitis. Extensive workup and therapeutic trials failed to confirm the diagnosis of tuberculosis or sarcoidosis. Her 7-...

Case report: Congenital disfiguring malformations are rare and usually have a multifactorial aetiology. Here we report on the ocular manifestations seen in a patient with Proteus syndrome. The retina showed retinal dysgenesia, retinal pigmentary abnormalities and optic nerve hypoplasia. Other abnormalities included strabismus and high myopia. Discussion: Proteus syndrome is a complex hamartomat...

Defects of neutrophil mobility are being recognised in an increasing number of patients with recurrent pyogenic infections.' In many patients it is difficult to determine whether the neutrophil defect is primary or secondary. As with other types of immunodeficiency, family studies, in which inheritance can be established, afford a good opportunity to define the disorder.2 We describe a family w...

Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosa...

Dowling-Degos disease is a rare autosomal dominant inherited pigmentary disorder, mostly confined to the flexures. Diagnosis is established based on the clinical and histopathological correlation. The authors describe the clinical case of a female patient with vulvar involvement and multiple seborrhoeic keratoses on her face, neck, and upper trunk. Major and minor clinical manifestations of Dow...