Cross-McKusick-Breen Syndrome, Oculocerebral Syndrome with Hypopigmentation, Cross Syndrome, Depigmentation-Gingival Fibromatosis-Microphthalmia or Kramer Syndrome is an extremely rare inherited disorder characterized by the lack of normal color of the skin and hair.The skin lacks melanin and as a result, is extremely sensitive to exposure to the sun.It is also associated with impaired vision, breathing di  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

Epidermal nevi or epidermal nevus syndrome are harmless, hamartomatous skin growths that appear at birth or evolve in childhood. They are regarded to be a type of cutaneous mosaicism since they are made up of a variety of epidermal cells and structures, such as keratinocytes, smooth muscle cells, hair follicles, apocrine and eccrine glands, and sebaceous glands.Epidermal nevus syndromes are a set of rare complicate  Read More

Focal dermal hypoplasia (FDH), commonly known as Goltz syndrome, primarily affects the development of the skin, hands, feet, and eyes. It is considered one of the Ectodermal dysplasia types, which is a sort of heritable condition that affects how the hair, teeth, nails, and glands develop and work. About 90% of all FDH cases are female, according to statistics.Numerous bone abnormalities, some of which may be prese  Read More

Gottron syndrome is a very rare genetic condition that causes premature aging (progeroid), particularly on the hands and feet where the skin is extraordinarily thin and fragile (distal extremities). These distinctive skin conditions are present from birth, even though the ailment is most frequently identified in early childhood.As a non-progressive condition, Gottron syndrome's symptoms do not often worsen over tim  Read More

Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; sparse hair (hypotrichosis); eye abnormalities; dental defects; degenerative skin changes (atrophy), particularly in the scalp and nasal regions; and proportionate short stature. Characteristic craniofacial features include a short, broad head (brachycephaly) with an unusually  Read More

Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; sparse hair (hypotrichosis); eye abnormalities; dental defects; degenerative skin changes (atrophy), particularly in the scalp and nasal regions; and proportionate short stature. Characteristic craniofacial features include a short, broad head (brachycephaly) with an unusually  Read More

Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome, is a rare inherited disorder that belongs to a group of disorders known as the ectodermal dysplasias. Major characteristics of Hay-Wells syndrome include sparse, coarse, wiry hair; small, sparse eyelashes; excess bands of fibrous tissue that cause the edges (margins) of the upper and lower eyelids to fuse together (ankyloblepharon filiforme adnatum)  Read More

Ichthyosis fetalis is autosomal recessive congenital disorder that affects the outer layers of the skin.This disorder is affected by problems in the ABCA12 named gene; the role of the ABCA12 gene is to protect the skin's outer layer from microorganisms by maintaining the skin's protective barrier. This gene works to transport the keratinocyte transmembrane lipid-protein.A dysfunction in this workin  Read More

Epidermal nevus syndromes (ENSs) are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extra-cutaneous abnormalities, most often affecting the brain, eye and skeletal systems. Epidermal nevi are overgrowths of structures and tissue of the epidermis, the outermost layer of the skin. The different types of epidermal nevi can vary in size, number, location, distribut  Read More

Ichthyosis Chanarin Dorman syndrome (CDS) is a rare autosomal disease that is also known as Ichthyotic Neutral Lipid Storage Disease with Ichthyosis (NSLDi). The mutations in the gene ABHD5 that is located on the short arm of chromosome 3.The gene encodes for a stimulating factor called the alpha-beta hydrolase domain, which is crucial for the enzyme Adipose TriGlyceride Lipase (ATGL).The primary role of A  Read More

Epidermal nevus syndromes (ENSs) are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extra-cutaneous abnormalities, most often affecting the brain, eye and skeletal systems. Epidermal nevi are overgrowths of structures and tissue of the epidermis, the outermost layer of the skin. The different types of epidermal nevi can vary in size, number, location, distribut  Read More

Epidermal nevus syndromes (ENSs) are a group of rare complex disorders characterized by the presence of skin lesions known as epidermal nevi associated with additional extra-cutaneous abnormalities, most often affecting the brain, eye and skeletal systems. Epidermal nevi are overgrowths of structures and tissue of the epidermis, the outermost layer of the skin. The different types of epidermal nevi can vary in size, number, location, distribut  Read More

Rothmund-Thomson syndrome is a rare genetic disorder that manifests in early infancy. The range and severity of symptoms may vary from case to case. RTS is typically characterized by skin rash, sparse hair, malformed bones, abnormal clouding of the lenses of the eyes (juvenile cataracts), small stature, and other physical abnormalities. Intelligence is usually normal, but some affected individuals have been reported to have intellectual disabi  Read More

Rothmund-Thomson syndrome is a rare genetic disorder that manifests in early infancy. The range and severity of symptoms may vary from case to case. RTS is typically characterized by skin rash, sparse hair, malformed bones, abnormal clouding of the lenses of the eyes (juvenile cataracts), small stature, and other physical abnormalities. Intelligence is usually normal, but some affected individuals have been reported to have intellectual disabi  Read More

Scalded Skin Syndrome (SSS) is a serious skin infection characterized by the peeling of skin over large parts of the body.This type of skin infection is caused by Staphylococcal aureus bacteria and can be treated as under:Oral Antibiotics: Antibiotics covering staphylococcus should be administered during early stages of infection. Cefazolin, Nafcillin or Oxacillin Antibiotics should be administered for methic  Read More

A genetic disease caused due to mutations mainly caused due to mutation in the TGM5 gene is called Skin Peeling Syndrome.TGM5 enzymes act as a protective barrier for the outermost layer of the skinScarcity in the production of TGM5 enzyme give rise to the separate layer and peeling off.Light peeling or dryness is common in peopleIf it is happening continuously, it is a syndrome and needs  Read More