ORPHA:263534

Acral peeling skin syndrome

Synonyms: Acral PSS · Localized PSS · PSS 2 · Peeling skin syndrome 2

A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Acral peeling skin syndrome	Acral PSS · Localized PSS · PSS 2 · Peeling skin syndrome 2
fr	Peeling skin syndrome type acral	PSS acral · PSS localisé · PSS2
de	Peeling-Skin-Syndrom, akrales	Akrales PSS · Lokalisiertes PSS · PSS2 · Peeling Skin-Syndrom Typ 2
es	Síndrome de descamación cutánea acral	PSS 2 · PSS acral · PSS localizado · Síndrome de descamación de la piel 2
it	Sindrome da desquamazione cutanea acrale	PSS acrale · PSS localizzata · PSS2 · Pelle deciduale acrale · Pelle deciduale localizzata · Sindrome da desquamazione cutanea 2
nl	Acrale 'peeling skin'-syndroom	'Peeling skin'-syndroom 2 · Acrale PSS · Gelokaliseerde PSS · PSS2
pt	Síndrome de pele descamativa acral	PSS acral · PSS localizada · PSS2 · Síndrome 2 de pele descamativa
pl	Zlokalizowany zespół złuszczania się skóry	Zespół złuszczania skóry kończyn
cs	Akrální syndrom loupající se kůže	Akrální PSS · Lokalizovaný PSS · Akrální opadavá kůže · Lokalizovaná opadavá kůže
uk	Синдром акрального лущення шкіри	Acral PSS · Локалізований PSS · Синдром лущення шкіри 2 · PSS 2
zh	肢端皮肤剥脱综合征	局部性皮肤剥脱
tr	Akral soyulma cilt sendromu	Akral PSS · Lokalize PSS · Akral deri dökülmesi · Lokalize deri dökülmesi

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	609796	E		validated
ICD-10	Q80.8	NTBT	attributed	validated
ICD-11	EC20.1	NTBT	index	validated
MONDO	0012345	E		validated
MeSH	C536316	E		validated
UMLS	C1853354	E		validated
GARD	12863	E		validated
MedDRA	10078538	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CSTA	Disease-causing germline mutation(s) in	Assessed	HGNC:2481	ENSG00000121552	184600	3q21.1	cystatin A	26684698[PMID]
TGM5	Disease-causing germline mutation(s) in	Assessed	HGNC:11781	ENSG00000104055	603805	15q15.2	transglutaminase 5	9767297[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		40 cases	Worldwide	Case(s)	Validated	22622422[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

12 annotations · validated 2017-01-24

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0008066	Abnormal blistering of the skin
HP:0012393	Allergy
HP:0000964	Eczematoid dermatitis
HP:0010783	Erythema
HP:0008499	High hypermetropia
HP:0008064	Ichthyosis
HP:0040189	Scaling skin
Occasional (29-5%)
HP:0007605	Excessive wrinkling of palmar skin
HP:0000953	Hyperpigmentation of the skin
HP:0012733	Macule
HP:0200034	Papule
HP:0200041	Skin erosion

Annotation source: 20164844[PMID]_26684698[PMID]