Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Autosomal dominant palmoplantar keratoderma and congenital alopecia(PPKCA1)

MedGen UID:: 930338
•Concept ID:: C4304669
•: Disease or Syndrome

Synonyms:	KERATODERMA-HYPOTRICHOSIS-LEUKONYCHIA TOTALIS SYNDROME; PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1; Palmoplantar keratoderma with congenital alopecia; PPKCA, STEVANOVIC TYPE
SNOMED CT:	Autosomal dominant palmoplantar keratoderma and congenital alopecia (719518004); Palmoplantar keratoderma and congenital alopecia Stevanovic type (719518004)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	GJA1 (6q22.31)

Monarch Initiative:	MONDO:0007083
OMIM®:	104100
Orphanet:	ORPHA1010

Definition

Palmoplantar keratoderma and congenital alopecia-1 (PPKCA1) is a rare autosomal dominant disorder characterized by severe hyperkeratosis and congenital alopecia. Nail changes occur in some patients (summary by Castori et al., 2010). Also see PPKCA2 (212360), an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation. [from OMIM]

Clinical features

From HPO

Palmoplantar keratoderma

MedGen UID:: 1635750
•Concept ID:: C4551675
•: Disease or Syndrome

Abnormal thickening of the skin of the palms of the hands and the soles of the feet.

See: Feature record | Search on this feature

Sparse eyebrow

MedGen UID:: 371332
•Concept ID:: C1832446
•: Finding

Decreased density/number of eyebrow hairs.

See: Feature record | Search on this feature

Alopecia

MedGen UID:: 7982
•Concept ID:: C0002170
•: Finding

A noncongenital process of hair loss, which may progress to partial or complete baldness.

See: Feature record | Search on this feature

Hyperpigmentation of the skin

MedGen UID:: 57992
•Concept ID:: C0162834
•: Pathologic Function

A darkening of the skin related to an increase in melanin production and deposition.

See: Feature record | Search on this feature

Leukonychia

MedGen UID:: 68698
•Concept ID:: C0240182
•: Finding

White discoloration of the nails.

See: Feature record | Search on this feature

Keratosis pilaris

MedGen UID:: 82664
•Concept ID:: C0263383
•: Disease or Syndrome

An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.

See: Feature record | Search on this feature

Brittle hair

MedGen UID:: 120480
•Concept ID:: C0263490
•: Disease or Syndrome

Fragile, easily breakable hair, i.e., with reduced tensile strength.

See: Feature record | Search on this feature

Nail dysplasia

MedGen UID:: 331737
•Concept ID:: C1834405
•: Congenital Abnormality

The presence of developmental dysplasia of the nail.

See: Feature record | Search on this feature

Epidermal hyperkeratosis

MedGen UID:: 338541
•Concept ID:: C1848773
•: Finding

See: Feature record | Search on this feature

Plantar hyperkeratosis

MedGen UID:: 341658
•Concept ID:: C1856954
•: Finding

Hyperkeratosis affecting the sole of the foot.

See: Feature record | Search on this feature

Palmoplantar erythema

MedGen UID:: 1377065
•Concept ID:: C4476809
•: Finding

Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.

See: Feature record | Search on this feature

Sparse hair

MedGen UID:: 1790211
•Concept ID:: C5551005
•: Finding

Reduced density of hairs.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of head or neck
- Sparse eyebrow
Abnormality of limbs
- Palmoplantar keratoderma
Abnormality of the integument

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal dominant palmoplantar keratoderma and congenital alopecia

Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
- Autosomal dominant palmoplantar keratoderma and congenital alopecia

Recent clinical studies

Diagnosis

Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2.

Castori M, Morlino S, Sana ME, Paradisi M, Tadini G, Angioni A, Malacarne M, Grammatico P, Iascone M, Forzano F
Clin Exp Dermatol 2016 Aug;41(6):632-5. Epub 2016 Jun 24 doi: 10.1111/ced.12857. PMID: 27339777

See all (1)

Clinical prediction guides

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.

Wang H, Cao X, Lin Z, Lee M, Jia X, Ren Y, Dai L, Guan L, Zhang J, Lin X, Zhang J, Chen Q, Feng C, Zhou EY, Yin J, Xu G, Yang Y
Hum Mol Genet 2015 Jan 1;24(1):243-50. Epub 2014 Aug 28 doi: 10.1093/hmg/ddu442. PMID: 25168385

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Autosomal dominant palmoplantar keratoderma and congenital alopecia(PPKCA1)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Recent activity