Syndromes affecting the skin

neurological and skin disorder associated with port-wine stains of the face, glaucoma, seizures, intellectual disability, and cerebral malformations

a rare disease characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body

an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma

human disease

autosomal recessive form of ichthyosis apparent at birth

Bromism is the syndrome which results from the long-term consumption of bromine, usually through bromine-based sedatives such as potassium bromide and lithium bromide. Bromide was used in medicinal drugs for indications as broad as insomnia, hysteria, anxiety, and even excessive libido, making it one of the most frequently used class of medicinal drugs prior to its reduction in the early 20th century.

Human disease

medical condition

autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity

rare disease

Human disease

hereditary spastic paraplegia that has material basis in variation in the chromosome region 1q24-q32

autosomal dominant disease characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate)

syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs

Human disease

Human disease

autosomal recessive disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin

a disorder of the skin

Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis

medical condition

rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities

Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia

Human skin disease

Rare X-linked form of chondrodysplasia punctata

human disease