The first sign of Sjögren-Larsson syndrome is often preterm birth. Apparent at birth, the ichthyosis associated with SLS often starts as thickened skin that is yellow-brown in color (hyperkeratosis). This thickened skin eventually progresses to full scaling, especially at the neck, lower abdomen, and underarms, groin, and back of knees (flexures). Unique to SLS is the itchy characteristic of the skin (pruritis). The second feature  Read More

Ichthyosis hystrix, Curth-Macklin type is a rare autosomal dominant disorder characterized by dark hyperkeratotic plaques and palmoplantar keratoderma over knuckles, knees, and elbows.The causative mutations occur in the gene KRT1. The gene is responsible for the supramolecular assembly of keratin intermediate filaments.The histological examination of skin lesion biopsies diagnoses the disease through the  Read More

Until recently the relationship of Stevens-Johnson syndrome to other severe blistering disorders was a matter of some debate. Now a consensus seems to be evolving that describes SJS as a rare disorder involving lesions of the mucous membranes along with small blisters on the reddish or purplish, flat, thickened patches of skin. As a result, SJS is now distinguished as a separate disorder from erythema multiforme major (EMM). SJS is now conside  Read More

A genetic skin condition called hallopeau-siemens disease or dystrophic epidermolysis bullosa causes blisters to grow. One of the more severe types is the Hallopeau-Siemens syndrome type.Due to the defect's location in the dermis at the dermo-epidermal junction, even little skin trauma results in profuse blister production that always heals with scars.Anchoring fibrils are either absent or inadequate due t  Read More

Ichthyosis is a general term for a family of rare genetic skin diseases characterized by dry, thickened, scaling skin. The various forms are distinguished from one another by: 1) extent of the scaling and how widely and where the scaling is scattered over the body; 2) the presence or absence and intensity of reddening of the skin (erythroderma); 3) the mode of inheritance; and 4) the character of associated abnormalities.  Read More

The first sign of Sjögren-Larsson syndrome is often preterm birth. Apparent at birth, the ichthyosis associated with SLS often starts as thickened skin that is yellow-brown in color (hyperkeratosis). This thickened skin eventually progresses to full scaling, especially at the neck, lower abdomen, and underarms, groin, and back of knees (flexures). Unique to SLS is the itchy characteristic of the skin (pruritis). The second feature  Read More

Haim-Munk syndrome is a rare inherited disorder characterized by the development of dry scaly patches of skin that are abnormally red and thickened on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis). Such patches may appear around the age of one to five years. However, in some cases, hyperkeratosis may be present at birth (congenital). These reddened patches are usually confined to the undersides of the hands and fee  Read More

Non-scarring epidermolysis bullosa is a disease that results from mutations in KRT5 or KRT14 gene. These genes provide instructions for making a protein called keratin 5 and 14. There are two major types, and seventeen minor subtypes for this disease, all of which have common effects and symptoms.Among these, the four major subtypes of EBS are here:EBS-loc- in this, blisters are rarely present at birth and ma  Read More

Papillon-Lefèvre syndrome is characterized by the development of dry scaly patches of skin (hyperkeratosis) usually around the age of one to five years. These patches are usually confined to the undersides of the hands and feet, but may spread to the knees and elbows. Rarely, the upper portions of the hands and feet, the eyelids, the lips, the cheeks, and/or other areas of the body may also be affected. Affected skin may be unusually re  Read More