Albinism–deafness syndrome

Medical condition

Albinism–deafness syndrome
Other names	Woolf syndrome and Ziprkowski–Margolis syndrome

Albinism–deafness syndrome is inherited in an X-linked recessive manner
Specialty	Dermatology

Albinism–deafness syndrome is a condition characterized by congenital neural deafness and a severe or extreme piebald-like phenotype with extensive areas of hypopigmentation.^[1]

A locus at Xq26.3-q27.I has been suggested.^[2]

It has been suggested that it is a form of Waardenburg syndrome type II.^[3]

References

^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 928. ISBN 978-1-4160-2999-1.
^ Shiloh Y, Litvak G, Ziv Y, et al. (July 1990). "Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I". Am. J. Hum. Genet. 47 (1): 20–7. PMC 1683749. PMID 2349949.
^ Zlotogora J (November 1995). "X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis". Am. J. Med. Genet. 59 (3): 386–7. doi:10.1002/ajmg.1320590321. PMID 8599367.

External links

Classification	D ICD-10: H90.5 OMIM: 300700 MeSH: C537042
External resources	Orphanet: 998

Pigmentation disorders/Dyschromia

Hypo-/
leucism

Loss of
melanocytes

Vitiligo	Quadrichrome vitiligo Vitiligo ponctué
Syndromic	Alezzandrini syndrome Vogt–Koyanagi–Harada syndrome
Melanocyte development	Piebaldism Waardenburg syndrome Tietz syndrome

Loss of melanin/
amelanism

Albinism	Oculocutaneous albinism Ocular albinism in humans
Melanosome transfer	Hermansky–Pudlak syndrome Chédiak–Higashi syndrome Griscelli syndrome Elejalde syndrome Griscelli syndrome type 2 Griscelli syndrome type 3
Other	Cross syndrome ABCD syndrome Albinism–deafness syndrome Idiopathic guttate hypomelanosis Phylloid hypomelanosis Progressive macular hypomelanosis

Leukoderma w/o
hypomelanosis

Ungrouped

Hyper-

Melanin/
Melanosis/
Melanism

Reticulated	Dermatopathia pigmentosa reticularis Pigmentatio reticularis faciei et colli Reticulate acropigmentation of Kitamura Reticular pigmented anomaly of the flexures Naegeli–Franceschetti–Jadassohn syndrome Dyskeratosis congenita X-linked reticulate pigmentary disorder Galli–Galli disease Revesz syndrome
Diffuse/ circumscribed	Lentigo/Lentiginosis: Lentigo simplex Liver spot Centrofacial lentiginosis Generalized lentiginosis Inherited patterned lentiginosis in black persons Ink spot lentigo Lentigo maligna Mucosal lentigines Partial unilateral lentiginosis PUVA lentigines Melasma Erythema dyschromicum perstans Lichen planus pigmentosus Café au lait spot Poikiloderma (Poikiloderma of Civatte Poikiloderma vasculare atrophicans) Riehl melanosis
Linear	Incontinentia pigmenti Scratch dermatitis Shiitake mushroom dermatitis
Other/ ungrouped	Acanthosis nigricans Freckle Familial progressive hyperpigmentation Pallister–Killian syndrome Periorbital hyperpigmentation Photoleukomelanodermatitis of Kobori Postinflammatory hyperpigmentation Transient neonatal pustular melanosis

Other
pigments

Iron	Hemochromatosis Iron metallic discoloration Pigmented purpuric dermatosis Schamberg disease Majocchi's disease Gougerot–Blum syndrome Doucas and Kapetanakis pigmented purpura/Eczematid-like purpura of Doucas and Kapetanakis Lichen aureus Angioma serpiginosum Hemosiderin hyperpigmentation
Other metals	Argyria Chrysiasis Arsenic poisoning Lead poisoning Titanium metallic discoloration
Other	Carotenosis Tar melanosis