Keratoderma with woolly hair
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Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The woolly hair texture typically affects only scalp hair and is present from birth. Starting early in life, affected individuals also develop palmoplantar keratoderma, a condition that causes skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused.
Descrizione
Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The woolly hair texture typically affects only scalp hair and is present from birth. Starting early in life, affected individuals also develop palmoplantar keratoderma, a condition that causes skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused.
Cardiomyopathy, which is a disease of the heart muscle, is a life-threatening health problem that can develop in people with keratoderma with woolly hair. Unlike the other features of this condition, signs and symptoms of cardiomyopathy may not appear until adolescence or later. Complications of cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, and sudden death.
Keratoderma with woolly hair comprises several related conditions with overlapping signs and symptoms. Researchers have recently proposed classifying keratoderma with woolly hair into four types, based on the underlying genetic cause. Type I, also known as Naxos disease, is characterised by palmoplantar keratoderma, woolly hair, and a form of cardiomyopathy called arrhythmogenic right ventricular cardiomyopathy (ARVC). Type II, also known as Carvajal syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy, called dilated left ventricular cardiomyopathy. Type III also has signs and symptoms similar to those of type I, including ARVC, although the hair and skin abnormalities are often milder. Type IV is characterised by palmoplantar keratoderma and woolly and sparse hair, as well as abnormal fingernails and toenails. Type IV does not appear to cause cardiomyopathy.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Altri nomi
KWWH
Related patient information and medicines
Patient information leaflet
Artrite reattiva
Reactive arthritis is a type of arthritis in which you develop inflammation in joints after you have had an infection in some other part of the body. For example, after a bad bout of diarrhoea you might develop a sore knee a couple of weeks later. It is more serious than conjunctivitis. A scaly skin rash on the hands and feet (keratoderma.
Patient information leaflet
Posso assumere Biotina e Collagene insieme?
There are no known harmful interactions between biotin and collagen. In fact, they are frequently taken together in 'hair, skin, and nails' supplements because they work in different ways to support the body's connective tissues. Why this happens Biotin is a B-vitamin (B7) that helps the body convert nutrients into energy and supports the.
Patient information leaflet
Cisti epidermoidali e pilari
Epidermoid e pilar cysts are commonly referred to as 'sebaceous cysts' (pronounced 'seb-ay-shuss'). They are overgrowths of skin cells (called keratin) held together in a little capsule, or sac. They are harmless smooth lumps just under the surface of the skin. They are not cancerous and do not require removal unless they are bothering you by.
Patient information leaflet
Idrosadenite suppurativa
A newer treatment works by blocking a chemical of the immune system that causes inflammation in the body. What is hidradenitis suppurativa. Hidradenitis suppurativa (HS) è a long-term (chronic) inflammatory skin disease con recurrent boil-like lumps. These boils often become bigger and turn into collections of pus (abscesses ). The abscesses.
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Lifting del viso
This leaflet is provided by the British Association of Aesthetic Plastic Surgeons , the professional body responsible for the advancement of education and safety in aesthetic plastic surgery. As part of the aging process which happens to all of us sooner or late, our skin progressively loses its elasticity and our muscles tend to slacken. The.
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Lichen planus
Lichen planus mainly causes an itchy skin rash. In some people it also affects other parts of the body such as the mouth, genitals, nails and hair. Most people get better in 6-12 months. Treatment, commonly with a steroid cream or ointment, often eases the ... What is lichen planus. Lichen planus is a condition that mainly affects the skin to.
Ulteriori letture e riferimenti
- Keratoderma with woolly hair; MedlinePlus, National Library of Medicine.
- McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000 Jun 17;355(9221):2119-24. doi: 10.1016/S0140-6736(00)02379-5.
- Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000 Nov 1;9(18):2761-6. doi: 10.1093/hmg/9.18.2761.
- Petrof G, Mellerio JE, McGrath JA. Desmosomal genodermatoses. Br J Dermatol. 2012 Jan;166(1):36-45. doi: 10.1111/j.1365-2133.2011.10640.x.
- Polivka L, Bodemer C, Hadj-Rabia S. Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases. J Med Genet. 2016 May;53(5):289-95. doi: 10.1136/jmedgenet-2015-103403. Epub 2015 Sep 23.
- Ramot Y, Molho-Pessach V, Meir T, Alper-Pinus R, Siam I, Tams S, Babay S, Zlotogorski A. Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. J Med Genet. 2014 Jun;51(6):388-94. doi: 10.1136/jmedgenet-2014-102346. Epub 2014 Mar 26.
- Ramot Y, Zlotogorski A. The twisting tale of woolly hair: a trait with many causes. J Med Genet. 2015 Apr;52(4):217-23. doi: 10.1136/jmedgenet-2014-102630. Epub 2015 Jan 5.
- Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, McKenna WJ, Behr ER, Crosby AH. Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology. 2009;113(1):28-34. doi: 10.1159/000165696. Epub 2008 Oct 29.
Storia dell'articolo
Articolo disponibile anche in Inglese, Tedesco, Spagnolo, Francese, Italiano, Portoghese, Hindi, Ebraico, Arabo, and Svedese.
2 Ottobre 2024 | Ultima versione
1 Nov 2015 | Pubblicato originariamente
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