Inherited dark neck

Dowling-Degos disease (DDD) is a benign, rare genodermatosis (reticulate pigmented anomaly) of flexure sites with autosomal dominant inheritance (1,2).The disease is caused by a loss-of-function mutation of keratin 5 (KRT5) present on the chromosome 12q gene (3). It usually affects the younger population, most commonly 20-30 years of age, with some patients being older and with a predominance in the female population (4). The disease is characterized by formation of dark, hyperpigmented macules which are confined to the flexure sites, most commonly over the axillae, groin area, and neck, along with scattered, comedo-like lesions and pitted acneiform scars (3,5)...

Dowling Degos disease is a rare condition inherited as autosomal dominant trait characterized by numerous, asymptomatic, symmetrical, progressive, small, round-pigmented macules over axillae and groins, face, neck, arms and trunk, scattered comedo-like lesions (dark dot follicles) and pitted acneiform scars. Histopathology is diagnostic. We are hereby reporting three cases of Dowling Degos disease belonging to two families. Our first and second case belonged to the same family, whereas our third case belonged to different family...

BACKGROUND: Ochronosis is a very rare disorder with an incidence of 2 to 5 per million live births. It is a genetic disorder with autosomal recessive inheritance. It is characterized by dark brown pigmentation of cartilage, capsules of joints and other soft tissues. Ochronosis usually presents as ochronotic arthropathy and spondylosis. PURPOSE: This article describes a very rare presentation of scoliosis and fracture of the neck of the femur in a patient with ochronosis...

Xeroderma pigmentosum (XP) is a rare autosomal recessive inherited disorder caused by a defect in the normal repair of DNA of various cutaneous cell types damaged by exposure to ultraviolet radiation. We present our 7-year experience with 36 XP patients who either visited the Department of Dermatology or were seen in the medical camps arranged in remote areas for patients' welfare, from 1995 to 2001. For ease of discussion we classified all cases into the following subgroups on clinical grounds only: mild, those with light brown freckles on the face alone; moderate, those with dark brown freckles with burning on the face, neck, ears, chest, hands and photophobia but without other associated obvious cutaneous and ocular changes; severe, those with extensive dark brown freckles with burning on the exposed parts as well as on the unexposed parts of the body, i...

The Sjögren-Larsson syndrome (SLS) is characterized by congenital ichthyosis, spastic dior tetraplegia and mental retardation. The inheritance is autosomal recessive. All 36 patients with SLS alive in Sweden in 1980 were studied with regard to ichthyosis. A slight or moderate generalized hyperkeratosis, less pronounced in the face, was already present at birth. Collodion-like membranes were never seen. The ichthyosis developed to its full extent during infancy. It was sometimes slight but most often moderate...