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 rare 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-q27.1 has been suggested.[2]

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

## Contents

* 1 Presentation
* 2 Cause
* 3 See also
* 4 References
* 5 External links

## Presentation

Males affected by albinism-deafness syndrome present with profound sensorineural deafness and severe pigmentary abnormalities of the skin (piebald pigmentary variegation).

Female carriers present with variable hearing impairment without pigmentary abnormalities.[4]

## Cause

The gene that causes albinism-deafness syndrome is thought to be located on the q arm of the X chromosome. It has been variously mapped to Xq26.3-q27.1 and Xq24-q26 using DNA probes.[4]

## See also

* Albinism in humans

## References

1. ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 928. ISBN 978-1-4160-2999-1.
2. ↑ "Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I". Am. J. Hum. Genet. 47 (1): 20–7. July 1990. PMID 2349949.
3. ↑ 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.
4. ↑ 4.0 4.1 "Orphanet: Albinism-deafness syndrome". 9 April 2025. https://www.orpha.net/en/disease/detail/998.

## External links

Classification|

* ICD-10: H90.5
* OMIM: 300700
* MeSH: C537042

|

External resources|

* Orphanet: 998

* v
* t
* e

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

|

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|

* Vasospastic macule
* Woronoff's ring
* Nevus anemicus

Ungrouped|

* Nevus depigmentosus
* Postinflammatory hypopigmentation
* Pityriasis alba
* Vagabond's leukomelanoderma
* Yemenite deaf-blind hypopigmentation syndrome
* Wende–Bauckus syndrome

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

Dyschromia|

* Dyschromatosis symmetrica hereditaria
* Dyschromatosis universalis hereditaria

See also|

* Skin color
* Skin whitening
* Tanning
* Sunless
* Tattoo
* removal
* Depigmentation

Template:Genodermatoses-stub

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