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2.1
Congenital Generalized Hypertrichosis
HTC2

Presentation

It is characterized by excessive lanugo hair present at birth covering the entire body surface except the mucosae, palms, and soles. It is considered to be an autosomal dominant disorder, but sporadic presentations are also reported. [jamanetwork.com]

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This illustrates the need to accurately determine the type of excess hair present on a given patient. [emedicine.medscape.com]

Extensive, soft, black terminal hair, 3-4 cm long was present on the face (shaved), arms, back, buttocks and lower limbs [Figure 1] and [Figure 2]. Adult sexual hair was seen in axilla and pubic area. Hair on chest and abdomen was sparse. [ijdvl.com]

Nevoid hypertrichosis may be present at birth or appear later. In few cases, more than one patch of hair is present. The cause of hypertrichosis is unknown. [alsew.org]

Musculoskeletal

  • Normal Stature

    All these patients were of rather short stature, but had a normal number of teeth and unremarkable psychomotor development. [jle.com]

Skin

  • Hirsutism

    hypertrichosis excessive hairiness; hirsutism. [medical-dictionary.thefreedictionary.com]

    Hirsutism and hypertrichosis references Trueb RM, Wyss M, Itin PH. [Androgenetic alopecia, hirsutism and hypertrichosis]. Ther Umsch. 1999 Apr;56(4):219-24. Imcke E, Orfanos CE. [Hypertrichosis and hirsutism]. [keratin.com]

    Hirsutism is quantified by the Ferriman–Gallwey scale, with scores of 6–8 considered mildly hirsute, 8–15 serious, and >15 overt hirsutism. Other signs of hyperandrogenism are acne, oligo- or amenorrhea, and androgenetic alopecia. [en.tzermias.gr]

    What is the difference between hypertrichosis and hirsutism? Hypertrichosis is usually confused with a related hair disorder named as 'hirsutism'. Hirsutism is a clinical disorder characterized by excessive male hair growth pattern. [pharmainfo.net]

Treatment

We report on a patient with congenital generalized hypertrichosis, mental retardation, tonic-clonic seizures with onset during the first year of life and gingival overgrowth, unrelated to antiepileptic treatment. [moh-it.pure.elsevier.com]

Treatment Cosmetic treatment is usually undertaken, particularly for congenital hypertrichosis, where, unlike in many acquired hypertrichosis cases, the underlying problems cannot be cured. [hypertrichosis.com]

Patient was counseled and referred for full body laser treatment. However as she could not afford the treatment, she continued with shaving and waxing. [ijdvl.com]

An average of 20% hair is lost with each treatment. Hence, multiple treatments are required to achieve satisfactory results. [e-ijd.org]

Prognosis

Prognosis - Ambras syndrome Not supplied. Treatment - Ambras syndrome Resources - Ambras syndrome [checkorphan.org]

Etiology

AS was first described by Baumeister et al ., in 1993 and believed to be that of Petrus Gonzales, as reported by Rashid M Rashid, [2] followed by Balducci et al ., who described the etiology as specific genetic alteration, that is, pericentric inversion [jisppd.com]

DISCUSSION Various etiologies for the syndrome include excess of hypothalamic releasing factors, an inherited or acquired anomaly in the peripheral insulin response, increased levels of fat mobilising factors and others 3. [jpma.org.pk]

Disorders such as multiple sclerosis, rheumatoid arthritis, and Crohn’s disease are associated with different interleukin receptor genes and are believed to follow a common etiology. [omicsonline.org]

Epidemiology

The longer wavelength Nd: YAG laser is considered safest in treating darker skin phototypes. [6] Reporting such rare syndromes not only adds to the database, but pooled data analysis may give us a better insight into patterns of inheritance, epidemiology [ijdvl.com]

Guzick D (1998) Polycystic ovary syndrome: symptomatology, pathophy-siology, and epidemiology. Am J Obstet Gynecol 179:S89–S93 PubMed CrossRef Google Scholar 20. Hammerstein J, Cupceancu B (1969) Behandlung des Hirsutismus mit Cyproteronacetat. [link.springer.com]

MANAGMENT, EPIDEMIOLOGY, SOCIAL and CULTURE There is no cure for any congenital forms of hypertrichosis. The treatment for acquired hypertrichosis is based on attempting to address the underlying cause. [littlespyeye.wordpress.com]

Genet. (2006) [ Pubmed ] Prion diseases: epidemiology in man. Pedersen, N.S., Smith, E. APMIS (2002) [ Pubmed ] Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas. [wikigenes.org]

Pathophysiology

PATHOPHYSIOLOGY and DIAGNOSIS A number of mechanisms can lead to hypertrichosis. One cause involves areas of the skin that are transforming from the small vellus type to the larger terminal type. [littlespyeye.wordpress.com]

Prevention

Symptoms - Ambras syndrome Prevention - Ambras syndrome Not supplied. [checkorphan.org]

[…] following: JavaScript may be disabled or not running on your browser Your browser may appear to be an automated tool that is not allowed on Octopart You are using a VPN to access Octopart An error (please contact us so we can correct it) What can I do to prevent [octopart.com]

Hypertrichosis has no cure, and you can’t do anything to prevent the congenital form of the disease. The risk of certain forms of acquired hypertrichosis may be lowered by avoiding certain medications, such as minoxidil. [healthline.com]

Early recognition and differentiation from other congenital generalized lipodystrophies help in the initiation of appropriate preventive and therapeutic measures such as lifestyle modification and pharmacotherapy that helps postpone the onset of metabolic [idoj.in]

Shaving the hair or using depilatories will only prevent a temporary solution as the hair will grow back. Bleaching products are also available which help make the hair less noticeable. [healthmaza.com]

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