Piebaldism

piebaldism

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A condition in which the skin is partly brown and partly white, as in partial albuminism and vitiligo. See also waardenburg's syndrome.

Piebaldism

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Piebaldism

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Piebaldism
Classification and external resources
ICD-10	E 70.3 (ILDS E70.350)
ICD-9	709.09
OMIM	172800
DiseasesDB	29295
eMedicine	derm/689
MeSH	D016116

Piebaldism is a rare autosomal dominant disorder of melanocyte development.^[1]^:867 Common characteristics include a congenital white forelock, scattered normal pigmented and hypopigmented macules and a triangular shaped depigmented patch on the forehead.

Although piebaldism may visually appear to be partial albinism, it is a fundamentally different condition. The vision problems associated with albinism are not usually present as eye pigmentation is normal. Piebaldism differs from albinism in that the affected cells maintain the ability to produce pigment but have that specific function turned off. In albinism the cells lack the ability to produce pigment altogether.

It may be associated with KIT^[2] or SNAI2.^[3]

References

^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
^ Giebel LB, Spritz RA (October 1991). "Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism". Proc. Natl. Acad. Sci. U.S.A. 88 (19): 8696–9. doi:10.1073/pnas.88.19.8696. PMC 52576. PMID 1717985. http://www.pnas.org/cgi/pmidlookup?view=long&pmid=1717985.
^ Sánchez-Martín M, Pérez-Losada J, Rodríguez-García A, et al. (October 2003). "Deletion of the SLUG (SNAI2) gene results in human piebaldism". Am. J. Med. Genet. A 122A (2): 125–32. doi:10.1002/ajmg.a.20345. PMID 12955764.

External links

DermAtlas 874885248

Pigmentation disorders/Dyschromia (L80–L81, 709.0)

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	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 (Acral acanthotic anomaly) · 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 · Tattoo · Tar melanosis

Dyschromatoses

Dyschromatosis symmetrica hereditaria · Dyschromatosis universalis hereditaria

M: INT, SF, LCT

anat/phys/devp

noco(i/b/d/q/u/r/p/m/k/v/f)/cong/tumr(n/e/d), sysi/epon

proc, drug (D2/3/4/5/8/11)

Genetic disorder, membrane: cell surface receptor deficiencies

G protein-coupled receptor
(including hormone)

Class A	TSHR (Congenital hypothyroidism 1) · LHCGR (Male-limited precocious puberty) · FSHR (XX gonadal dysgenesis) · EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2) · AVPR2 (Nephrogenic diabetes insipidus 1) · PTGER2 (Aspirin-induced asthma)

Class B	PTH1R (Jansen's metaphyseal chondrodysplasia)

Class C	CASR (Familial hypocalciuric hypercalcemia)

Class F	FZD4 (Familial exudative vitreoretinopathy 1)

Enzyme-linked receptor
(including
growth factor)

RTK	ROR2 (Robinow syndrome) · FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome) · FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson-Weiss syndrome) · FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) · INSR (Donohue syndrome · Rabson–Mendenhall syndrome) · NTRK1 (Congenital insensitivity to pain with anhidrosis) · KIT (KIT Piebaldism, Gastrointestinal stromal tumor)

STPK	AMHR2 (Persistent Mullerian duct syndrome II) TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia) · TGFBR1/TGFBR2 (Loeys-Dietz syndrome)

GC	GUCY2D (Leber's congenital amaurosis 1)

JAK-STAT

Type I cytokine receptor: GH (Laron syndrome) · CSF2RA (Surfactant metabolism dysfunction 4)

MPL (Congenital amegakaryocytic thrombocytopenia)

TNF receptor

TNFRSF1A (TNF receptor associated periodic syndrome) · TNFRSF13B (Selective immunoglobulin A deficiency 2) · TNFRSF5 (Hyper-IgM syndrome type 3) · TNFRSF13C (CVID4) · TNFRSF13B (CVID2) · TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)

Lipid receptor

LRP: LRP2 (Donnai-Barrow syndrome) · LRP4 (Cenani Lenz syndactylism) · LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)

LDLR (LDLR Familial hypercholesterolemia)

Other/ungrouped

Immunoglobulin superfamily: AGM3, 6

Integrin: LAD1 · Glanzmann's thrombasthenia · Junctional epidermolysis bullosa with pyloric atresia

EDAR (EDAR Hypohidrotic ectodermal dysplasia) · PTCH1 (Nevoid basal cell carcinoma syndrome) · BMPR1A (BMPR1A Juvenile polyposis syndrome) · IL2RG (X-linked severe combined immunodeficiency)

see also cell surface receptors
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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