HYPERTRICHOSIS |
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naevoide hypertrichosis | naevoide hypertrichosis | hairy elbow syndrome |
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lumbo-sacrale hypertrichose | lumbo-sacrale hypertrichose | cervicale hypertrichose |
Hypertrichosis - indeling en geassocieerde syndromen: |
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Congenitale gegeneraliseerde hypertrichosis zonder andere afwijkingen - congenitale hypertrichosis lanuginosa - congenitale hypertrichosis universalis - hypertrichosis universalis congenita Ambras type (OMIM 145701) - X-linked hypertrichosis Congenitale gegeneraliseerde hypertrichosis geassocieerd met andere afwijkingen - CGH met gingivale fibromatosis (gingiva hyperplasie) (OMIM 135400) - CGH met amaurosis congenita cone-rod type - cataract, hypertrichosis, en mentale retardatie (CAHMR) syndroom - retinitis pigmentosa, amaurosis congenita - Zimmermann-Laband syndroom (OMIM 603305 e.a. genen) - hypertrichosis with coarse face, obesity, short stature and brachydactily - autosomaal-dominante congenitale gegeneraliseerde hypertrichosis terminalis Congenitale gegeneraliseerde hypertrichosis als onderdeel van erfelijke syndromen - Cornelia de Lange syndroom (OMIM 300590 / 300882) - Coffin-Siris syndroom (OMIM 614607 e.a. genen) - Barber-Say syndroom (OMIM 209885) - acromegaloid facial appearance with hypertrichosis - Wiedemann-Steiner syndroom (OMIM 605130) - Osteochondrodysplasia met hypertrichosis (Cantù syndroom) - Berardinelli-Seip congenitale lipodystrofie (OMIM 608594 e.a. genen) - Donohue syndroom (OMIM 246200) - Rabson-Mendelhall syndroom (OMIM 262190) - Torg-Winchester syndroom en nodulosis arthropathy-osteolysis (OMIM 277950) - Rubinstein-Taybi syndroom (OMIM 180849) - Schinzel-Giedion midface retraction syndroom (OMIM 269150) - Gorlin-Chaudry-Moss syndroom - adducted thumbs syndroom - stiff skin syndroom (OMIM 184900) - MELAS syndroom (mitochondriale encefalomyopathie, lactaat acidose en stroke-like episodes) Congenitale hyperhidrosis bij metabole aandoeningen - mucopolysaccharidosen type I, II, III, IV en VI - Gunther syndroom (OMIM 263700) - Hurler syndroom - Sanfilippo syndroom Aandoeningen waarbij congenitale gegeneraliseerde hypertrichosis kan voorkomen (zelden) - hemi-maxillofaciale dysplasie - craniofaciale dysostosis (OMIM 612289) - hypomelanosis van Ito Congenitale gelokaliseerde hypertrichosis - familial hypertrichosis cubiti (hairy elbow syndroom OMIM 139600) - hairy palms and soles (OMIM 139650) - hypertrichosis of the auricle (hypertrichosis pinna auris OMIM 139500 / 425500) - hypertrichosis van de neuspunt (OMIM 139630) - anterior cervical hypertrichosis - anterior cervical hypertrichosis with peripheral sensorimotor neuropathy (OMIM 239840) - posterior cervical hypertrichosis - posterior cervical hypertrichosis with kyphoscoliosis (OMIM 117850) - congenitale melanocytaire naevi - naevus van Becker - plexiform neurofibroma - primary nevoid hypertrichosis - secondary nevoid hypertrichosis (bij lipodystrofie Berardinelli-Seip syndroom, hemihypertrofie, scoliosis, vaatmalformaties) - Cornelia de Lange syndroom - Rubinstein-Taybi syndroom - lumbosacrale hypertrichosis (spinal dysraphism, spina bifida en andere neurale buis defecten) |
1. | Pavone P, Praticò AD, Falsaperla R, Ruggieri M, Zollino M, Corsello G, Neri G. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes. Ital J Pediatr 2015;41:55. PDF |
2. | Wendelin DS, Pope DN, Mallory SB. Hypertrichosis. J Am Acad Dermatol 2003;48(2):161-719; quiz 180-181. PDF |
3. | Buch J, Ranganath P. Approach to inherited hypertrichosis: A brief review. Indian J Dermatol Venereol Leprol 2021;88(1):11-21. PDF |
4. | Ma A, Gurnasinghani S, Kirk EP, McClenaghan C, Singh GK, Grange DK, Pandit C, Zhu Y, Roscioli T, Elakis G, Buckley M, Mehta B, Roberts P, Mervis J, Biggin A, Nichols CG. Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience. Am J Med Genet A 2019;179(8):1585-1590. |
31-05-2023 (JRM) - www.huidziekten.nl |
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ICD10 | L68.0 | Hirsutisme |
ICD10 | L68.0 | Hirsutism |
SNOMED | 399939002 | Hirsutism |
DBC | 12
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Haar- en nagelafwijkingen |
ICD10 | L86.1 | Verworven hypertrichosis lanuginosa |
ICD10 | L86.1 | Acquired hypertrichosis lanuginosa |
SNOMED | 201160005 | Acquired hypertrichosis lanuginosa |
DBC | 12
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Haar- en nagelafwijkingen |
ICD10 | L86.2 | Gelokaliseerde hypertrichose |
ICD10 | L86.2 | Localized hypertrichosis |
SNOMED | 201162002 | Hypertrichosis partialis |
DBC | 12
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Haar- en nagelafwijkingen |
ICD10 | L68.2 | Gelokaliseerde hypertrichose: sacrale hypertrichose |
ICD10 | L68.2 | Localized hypertrichosis: sacral hairy patch |
SNOMED | 417692009 | Sacral tuft of hair |
SNOMED | 823015001 | Hair tuft in skin of sacral region |
DBC | 12
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Haar- en nagelafwijkingen |
ICD10 | L86.3 | Polytrichose |
ICD10 | L86.3 | Polytrichia |
SNOMED | 201160005 | Hypertrichosis |
DBC | 12
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Haar- en nagelafwijkingen |
ICD10 | L86.8 | Overige gespecificeerde vormen van hypertrichosis |
ICD10 | L86.8 | Other hypertrichosis |
SNOMED | 29966009 | Hypertrichosis |
DBC | 12
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Haar- en nagelafwijkingen |
ICD10 | L86.9 | Hypertrichosis, niet gespecificeerd |
ICD10 | L86.9 | Hypertrichosis, unspecified |
SNOMED | 29966009 | Hypertrichosis |
DBC | 12
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Haar- en nagelafwijkingen |
ICD10 | Q84.2 | Overige congenitale misvormingen van haar: hypertrichosis lanuginosa |
ICD10 | Q84.2 | Other congenital malformations of hair: hypertrichosis lanuginosa |
SNOMED | 403799003 | Congenital hypertrichosis lanuginosa |
DBC | 12
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Haar- en nagelafwijkingen |
ICD10 | Q84.2 | Overige congenitale misvormingen van haar: congenitale hypertrichosis |
ICD10 | Q84.2 | Other congenital malformations of hair: congenital hypertrichosis |
SNOMED | 56797000 | Congenital hypertrichosis |
DBC | 12
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Haar- en nagelafwijkingen |
ICD10 | Q84.2 | Overige congenitale misvormingen van haar: congenitale gegeneraliseerde hypertrichosis |
ICD10 | Q84.2 | Other congenital malformations of hair: congenital generalized hypertrichosis |
SNOMED | 838368005 | Congenital generalized hypertrichosis |
DBC | 12
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Haar- en nagelafwijkingen |