| Autosomal recessive woolly hair | |
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| Autosomal recessive pattern is the inheritance manner of this condition | |
| Causes | Mutations in the LIPH, LPAR6 or KRT2 genes |
Woolly hair autosomal recessive is a rare hereditary hair disorder characterized by sparse, short, curly hair. [1]
The scalp hair is sparse, short and curly. It grows slowly and stops growing after a few inches.
This condition may be part of a more complex syndrome or an isolated mutation.
Isolated cases are due to mutations in the lipase member H (LIPH), lysophosphatidic acid receptor 6 (LPAR6) or keratin 2A (KRT2) genes. Isolated cases are inherited in an autosomal recessive fashion.
Lipase member H is an enzyme that in humans is encoded by the LIPH gene.
Lysophosphatidic acid receptor 6, also known as LPA6, P2RY5 and GPR87, is a protein that in humans is encoded by the LPAR6 gene. LPA6 is a G protein-coupled receptor that binds the lipid signaling molecule lysophosphatidic acid (LPA).
This is rare disorder. Precise estimates of its prevalence are not known.
This is made by light microscopy. A number of structural anomalies are visible under light microscopy including trichorrhexis nodosa and tapered ends.
Trichorrhexis nodosa is a defect in the hair shaft characterized by thickening or weak points (nodes) that cause the hair to break off easily. This group of conditions contributes to the appearance of hair loss, lack of growth, and damaged-looking hair.
Cardiofaciocutaneous (CFC) syndrome is an extremely rare and serious genetic disorder.
There is no treatment for this condition known at present.
In isolate cases life expectancy is normal and there are no other related problems.
As part of another syndrome this will depend on the other features of the syndrome.
Sabinas brittle hair syndrome, also called Sabinas syndrome or brittle hair-mental deficit syndrome, is an autosomal recessive congenital disorder affecting the integumentary system.
Ichthyosis is a family of rare genetic skin disorders characterized by dry, thickened, scaly skin.
Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people.
Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the palms and soles.
Ectodermal dysplasia (ED) is not a single disorder but a group of genetic syndromes all deriving from abnormalities of the ectodermal structures. More than 150 different syndromes have been identified.
Meleda disease (MDM) or "mal de Meleda", also called Mljet disease, keratosis palmoplantaris and transgradiens of Siemens, is an extremely rare autosomal recessive congenital skin disorder in which dry, thick patches of skin develop on the soles of the hands and feet, a condition known as palmoplantar hyperkeratosis.
Keratoderma is a hornlike skin condition.
Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia. The syndrome goes by a number of names including the popliteal web syndrome and, more inclusively, the facio-genito-popliteal syndrome. The term PPS was coined by Gorlin et al.. in 1968 on the basis of the most unusual anomaly, the popliteal pterygium.
Papillon–Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin C.
Desmoplakin is a protein in humans that is encoded by the DSP gene. Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contacts. In cardiac muscle, desmoplakin is localized to intercalated discs which mechanically couple cardiac cells to function in a coordinated syncytial structure. Mutations in desmoplakin have been shown to play a role in dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, striate palmoplantar keratoderma, Carvajal syndrome and paraneoplastic pemphigus.
Pachyonychia congenita is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes. Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain.
Oculodentodigital syndrome is an extremely rare genetic condition that typically results in small eyes, underdeveloped teeth, and syndactyly and malformation of the fourth and fifth fingers. It is considered a kind of ectodermal dysplasia.
Clouston's hidrotic ectodermal dysplasia is caused by mutations in a connexin gene, GJB6 or connexin-30, characterized by scalp hair that is wiry, brittle, and pale, often associated with patchy alopecia.
Naxos disease is a cutaneous condition characterized by a palmoplantar keratoderma. The prevalence of the syndrome is up to 1 in every 1000 people in the Greek islands.
Schöpf–Schulz–Passarge syndrome is an autosomal recessive condition with punctate symmetric palmoplantar keratoderma, with the keratoderma and fragility of the nails beginning around age 12. In addition to palmoplantar keratoderma, other symptoms include hypodontia, hypotrichosis, nail dystrophies, and eyelid cysts. Patients may also develop syringofibroadenoma and squamous cell carcinomas.
Howel–Evans syndrome is an extremely rare condition involving thickening of the skin in the palms of the hands and the soles of the feet (hyperkeratosis). This familial disease is associated with a high lifetime risk of esophageal cancer. For this reason, it is sometimes known as tylosis with oesophageal cancer (TOC).
Woolly hair nevus is a congenital condition in which hair in a circumscribed area of the scalp is kinked or woolly.
Haim–Munk syndrome is a cutaneous condition caused, like Papillon-Lefevre Syndrome, by a mutation in the cathepsin C gene. It is named after Dr. Salim Haim and Dr. J Munk, who first described the disease in 1965.
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome is a rare cutaneous condition characterized by ichthyosis and keratoderma.
Acrogeria is a skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. The prefix "acro" stems from the Greek akros which alludes to "extremity, tip" while the suffix "geria" comes from the Greek gerôn which means "elder".
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