Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Epidermolysis bullosa simplex due to plakophilin deficiency(EDSFS)

MedGen UID:: 388032
•Concept ID:: C1858302
•: Disease or Syndrome

Synonyms:	DSP-Related Ectodermal Dysplasia/Skin Fragility Syndrome; Ectodermal dysplasia skin fragility syndrome; Ectodermal Dysplasia/Skin Fragility Syndrome; Mcgrath syndrome; PKP1-Related Ectodermal Dysplasia/Skin Fragility Syndrome
SNOMED CT:	Epidermolysis bullosa simplex due to plakophilin deficiency (716699004); McGrath syndrome (716699004); Ectodermal dysplasia skin fragility syndrome (716699004)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	PKP1 (1q32.1)

Monarch Initiative:	MONDO:0011472
OMIM®:	604536
Orphanet:	ORPHA158668

Definition

Ectodermal dysplasia/skin fragility syndrome (EDSFS) is an autosomal recessive genodermatosis characterized by widespread skin fragility, alopecia, nail dystrophy, and focal keratoderma with painful fissures. Hypohidrosis and cheilitis are sometimes present (summary by Ersoy-Evans et al., 2006). [from OMIM]

Clinical features

From HPO

Palmoplantar keratosis

MedGen UID:: 44017
•Concept ID:: C0022596
•: Disease or Syndrome

Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.

See: Feature record | Search on this feature

Absent eyebrow

MedGen UID:: 98133
•Concept ID:: C0431448
•: Congenital Abnormality

Absence of the eyebrow.

See: Feature record | Search on this feature

Alopecia of scalp

MedGen UID:: 658454
•Concept ID:: C0574769
•: Finding

See: Feature record | Search on this feature

Anhidrosis

MedGen UID:: 1550
•Concept ID:: C0003028
•: Disease or Syndrome

Inability to sweat.

See: Feature record | Search on this feature

Ectodermal dysplasia

MedGen UID:: 8544
•Concept ID:: C0013575
•: Disease or Syndrome

Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.

See: Feature record | Search on this feature

Nail dystrophy

MedGen UID:: 66368
•Concept ID:: C0221260
•: Disease or Syndrome

Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.

See: Feature record | Search on this feature

Scaling skin

MedGen UID:: 472970
•Concept ID:: C0237849
•: Finding

Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.

See: Feature record | Search on this feature

Fragile skin

MedGen UID:: 66826
•Concept ID:: C0241181
•: Finding

Skin that splits easily with minimal injury.

See: Feature record | Search on this feature

Absent eyelashes

MedGen UID:: 334299
•Concept ID:: C1843005
•: Congenital Abnormality

Lack of eyelashes.

See: Feature record | Search on this feature

Abnormal blistering of the skin

MedGen UID:: 412159
•Concept ID:: C2132198
•: Finding

The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.

See: Feature record | Search on this feature

Dystrophic fingernails

MedGen UID:: 764340
•Concept ID:: C3551426
•: Finding

The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.

See: Feature record | Search on this feature

Palmoplantar blistering

MedGen UID:: 870430
•Concept ID:: C4024876
•: Finding

A type of blistering that affects the skin of the palms of the hands and the soles of the feet.

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
- Absent eyebrow
- Alopecia of scalp
Abnormality of limbs
- Palmoplantar keratosis
Abnormality of the integument

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEpidermolysis bullosa simplex due to plakophilin deficiency

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Ectodermal dysplasia
      - Epidermolysis bullosa simplex due to plakophilin deficiency

Follow this link to review classifications for Epidermolysis bullosa simplex due to plakophilin deficiency in Orphanet.

Recent clinical studies

Etiology

How do keratinizing disorders and blistering disorders overlap?

Hamada T, Tsuruta D, Fukuda S, Ishii N, Teye K, Numata S, Dainichi T, Karashima T, Ohata C, Furumura M, Hashimoto T
Exp Dermatol 2013 Feb;22(2):83-7. Epub 2012 Oct 8 doi: 10.1111/exd.12021. PMID: 23039137

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Epidermolysis bullosa simplex due to plakophilin deficiency(EDSFS)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

Recent activity