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Hirsutism is excessive body hair on parts of the body where hair is normally absent or minimal. The word is from early 17th century: from Latin hirsutus meaning "hairy". It usually refers to a male pattern of hair growth in a female that may be a sign of a more serious medical condition, especially if it develops well after puberty. Cultural stigma against hirsutism can cause much psychological distress and social difficulty. Discrimination based on facial hirsutism often leads to the avoidance of social situations and to symptoms of anxiety and depression.
Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance. Ichthyosis comes from the Greek ἰχθύςichthys, literally 'fish', since dry, scaly skin is the defining feature of all forms of ichthyosis.
Hypertrichosis is an abnormal amount of hair growth over the body. The two distinct types of hypertrichosis are generalized hypertrichosis, which occurs over the entire body, and localized hypertrichosis, which is restricted to a certain area. Hypertrichosis can be either congenital or acquired later in life. The excess growth of hair occurs in areas of the skin with the exception of androgen-dependent hair of the pubic area, face, and axillary regions.
Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the stratum corneum of the palms and soles.
Hyperimmunoglobulinemia E syndrome (HIES), of which the autosomal dominant form is called Job's syndrome or Buckley syndrome, is a heterogeneous group of immune disorders. Job's is also very rare at about 300 cases currently in the literature.
Dermatopathia pigmentosa reticularis(DPR) is a rare, autosomal dominant congenital disorder that is a form of ectodermal dysplasia. Dermatopathia pigmentosa reticularis is composed of the triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. DPR is a non life-threatening disease that largely affects the skin, hair, and nails. It has also been identified as a keratin disorder. Historically, as of 1992, only 10 cases had been described in world literature; however, due to recent advances in genetic analysis, five additional families studied in 2006 have been added to the short list of confirmed cases.
Hay–Wells syndrome is one of at least 150 known types of ectodermal dysplasia. These disorders affect tissues that arise from the ectodermal germ layer, such as skin, hair, and nails.
Chilblain lupus erythematosus was initially described by Hutchinson in 1888 as an uncommon manifestation of chronic cutaneous lupus erythematosus. Chilblain lupus erythematosus is characterized by a rash that primarily affects acral surfaces that are frequently exposed to cold temperatures, such as the toes, fingers, ears, and nose. The rash is defined by oedematous skin, nodules, and tender plaques with a purple discoloration.
Congenital smooth muscle hamartoma is typically a skin colored or lightly pigmented patch or plaque with hypertrichosis. Congenital smooth muscle hamartoma was originally reported in 1969 by Sourreil et al.
Trichorrhexis invaginata is a distinctive hair shaft abnormality that may occur sporadically, either in normal hair or with other hair shaft abnormalities, or regularly as a marker for Netherton syndrome. The primary defect appears to be abnormal keratinization of the hair shaft in the keratogenous zone, allowing for intussusception of the fully keratinized and hard distal shaft into the incompletely keratinized and soft proximal portion of the shaft.
Erythromelanosis follicularis faciei et colli is an erythematous pigmentary disease involving the follicles, characterized by a reddish-brown, sharply demarcated, symmetrical discoloration involving the preauricular and maxillary regions.
Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. The word breaks down into tricho – "hair", thio – "sulphur", and dystrophy – "wasting away" or literally "bad nourishment". TTD is associated with a range of symptoms connected with organs of the ectoderm and neuroectoderm. TTD may be subclassified into four syndromes: Approximately half of all patients with trichothiodystrophy have photosensitivity, which divides the classification into syndromes with or without photosensitivity; BIDS and PBIDS, and IBIDS and PIBIDS. Modern covering usage is TTD-P (photosensitive), and TTD.
Woolly hair is a difficult to brush hair, usually present since birth and typically most severe in childhood. It has extreme curls and kinks and occurs in non-black people and is distinct from afro-textured hair. The hairs come together to form tight locks, unlike in afro-textured hair, where the hairs remain individual. Woolly hair can be generalised over the whole scalp, when it tends to run in families, or it may involve just part of the scalp as in woolly hair nevus.
Trichomegaly is a condition in which the eyelashes are abnormally long, objectively defined as 12mm or greater in the central area and 8mm in the peripheral. The term was first used by H. Gray in 1944 in a publication in the Stanford Medical Bulletin, though he was only the third person to characterize the disorder; the first two reports were published in German in 1926 and 1931 by Reiter and Bab, respectively. Gray suggested the use of the term "movie lashes" to describe this condition, for long lashes were at the time being portrayed in film as a desirable characteristic in women.
Prepubertal hypertrichosis, also known as childhood hypertrichosis, is a cutaneous condition characterized by increased hair growth, found in otherwise healthy infants and children. Prepubertal hypertrichosis is a cosmetic condition and does not affect any other health aspect. Individuals with this condition may suffer with low self esteem and mental health issues due to societal perceptions of what a "normal" appearance should be. The mechanism of prepubertal hypertrichosis is unclear, but causes may include genetics, systemic illnesses, or medications.
Familial Amyloidosis, Finnish Type (FAF), also called hereditary gelsolin amyloidosis and AGel amyloidosis (AGel), is an amyloid condition with a number of associated cutaneous and neurological presentations deriving from the aberrant proteolysis of a mutated form of plasma gelsolin. First described in 1969 by the Finnish ophthalmologist Jouko Meretoja, FAF is uncommon with 400–600 cases described in Finland and 15 elsewhere.
Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly. Less than 50 cases have been described in the literature; they are associated with a mutation in the ABCC9-gene that codes for the ABCC9-protein.
Wiedemann–Rautenstrauch (WR) syndrome, also known as neonatal progeroid syndrome, is a rare autosomal recessive progeroid syndrome. There have been over 30 cases of WR. WR is associated with abnormalities in bone maturation, and lipids and hormone metabolism.
Wiedemann–Steiner syndrome(WSS) is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone (hypotonia). The syndrome was originally described in 1989 by Hans-Rudolf Wiedemann. The genetic basis for the syndrome was identified by Dr. Wendy D. Jones in 2012. The first case was reported in 1989 by Wiedemann and colleagues which reported a Caucasian boy with pre- and postnatal growth deficiency, psychomotor delay, and a round and flat face, short nose, widely spaced eyes, long philtrum, short palpebral fissures, low-set ears, and high-arched palate. Other findings included an alternating convergent squint, dilatation of the renal calyces, and short and thick limbs. Later decades brought about more finding and descriptions of this disorder.
CYLD cutaneous syndrome (CCS) is the recently designated term for three rare inherited cutaneous adnexal tumor syndromes: multiple familial trichoepithelioma (MFT1), Brooke–Spiegler syndrome (BSS), and familial cylindromatosis (FC). Cutaneous adnexal tumors are a large group of skin tumors that consist of tissues that have differentiated towards one of the four primary adnexal structures found in normal skin: hair follicles, sebaceous sweat glands, apocrine sweat glands, and eccrine sweat glands. CCS tumors are hair follicle tumors.
References
- 1 2 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ↑ Nardello, R; Mangano, S; Fontana, A; Tripi, G; Didato, M A; Di Pace, M; Corsello, G (2008). "The hairy elbows syndrome: clinical and neuroradiological findings". La Pediatria medica e chirurgica : Medical and surgical pediatrics. 30 (5): 262–264. PMID 19320141 . Retrieved 17 March 2024.
- 1 2 Tng, Vivian E.T.; de Zwaan, Sally (2015-12-09). "Hypertrichosis cubiti, a case report and literature review". Clinical Case Reports. Wiley. 4 (2): 138–142. doi:10.1002/ccr3.465. ISSN 2050-0904. PMC 4736513 .
- ↑ Andreev, Vladimir C. (1979-06-01). "Hairy Elbows". Archives of Dermatology. 115 (6): 761. doi:10.1001/archderm.1979.04010060059036. ISSN 0003-987X.
- ↑ Fernandez-Crehuet, Pablo; Ruiz-Villaverde, Ricardo; Fernandez-Crehuet Serrano, Jose Luis (November 2013). "Hairy elbows — A case study". Australian family physician. 42 (11): 801–802. PMID 24217102 . Retrieved 17 March 2024.
- ↑ Edwards, Matthew J.; Crawford, Anthony E.; Jammu, Vapinder; Wise, Graham (1994-10-15). "Hypertrichosis "cubiti" with facial asymmetry". American Journal of Medical Genetics. Wiley. 53 (1): 56–58. doi:10.1002/ajmg.1320530112. ISSN 0148-7299.
- ↑ Polizzi, A.; Pavone, P.; Ciancio, E.; Rosa, C. La; Sorge, G.; Ruggieri, M. (2005). "Hypertrichosis Cubiti (Hairy Elbow Syndrome): A Clue to a Malformation Syndrome". Journal of Pediatric Endocrinology and Metabolism. Walter de Gruyter GmbH. 18 (10). doi:10.1515/jpem.2005.18.10.1019. ISSN 2191-0251.
- ↑ Koç, A; Karaer, K; Ergün, M A; Cinaz, P; Perçin, E F (2007). "A new case of hairy elbows syndrome (hypertrichosis cubiti)". Genetic counseling (Geneva, Switzerland). 18 (3): 325–330. PMID 18019374.
- ↑ Jones, Wendy D.; Dafou, Dimitra; McEntagart, Meriel; Woollard, Wesley J.; Elmslie, France V.; Holder-Espinasse, Muriel; Irving, Melita; Saggar, Anand K.; Smithson, Sarah; Trembath, Richard C.; Deshpande, Charu; Simpson, Michael A. (2012). "De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome". The American Journal of Human Genetics. Elsevier BV. 91 (2): 358–364. doi:10.1016/j.ajhg.2012.06.008. ISSN 0002-9297. PMC 3415539 .
- ↑ Beighton, P (1970-06-01). "Familial hypertrichosis cubiti: hairy elbows syndrome". Journal of Medical Genetics. BMJ. 7 (2): 158–160. doi:10.1136/jmg.7.2.158. ISSN 1468-6244. PMC 1468803 .