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Ectodermal dysplasia skin fragility syndrome

MedGen UID:
388032
Concept ID:
C1858302
Disease or Syndrome
Synonyms: DSP-Related Ectodermal Dysplasia/Skin Fragility Syndrome; Ectodermal Dysplasia/Skin Fragility Syndrome; Mcgrath syndrome; PKP1-Related Ectodermal Dysplasia/Skin Fragility Syndrome
 
Gene: PKP1
Cytogenetic location: 1q32.1
OMIM: 604536

Clinical features

Furrowed tongue
MedGen UID:
504399
Concept ID:
CN000214
Finding
Accentuation of the grooves on the dorsal surface of the tongue.
Blepharitis
MedGen UID:
504467
Concept ID:
CN000466
Finding
Inflammation of the eyelids.
Abnormality of the eyebrow
MedGen UID:
446365
Concept ID:
CN000500
Finding
An abnormality of the `eyebrow` (FMA:54237).
Blepharitis
MedGen UID:
504467
Concept ID:
CN000466
Finding
Inflammation of the eyelids.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A disorder characterized by a decrease in density of hair compared to normal for a given individual at a given age and body location.
Abnormality of the eyebrow
MedGen UID:
446365
Concept ID:
CN000500
Finding
An abnormality of the `eyebrow` (FMA:54237).
Pruritus
MedGen UID:
504677
Concept ID:
CN000926
Finding
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
Abnormality of the nail
MedGen UID:
446417
Concept ID:
CN001454
Finding
Abnormality of the `nail` (FMA:54326).
Abnormal blistering of the skin
MedGen UID:
428779
Concept ID:
CN007093
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.
Skin ulcer
MedGen UID:
506561
Concept ID:
CN117783
Finding
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Abnormality of immune system physiology
MedGen UID:
451258
Concept ID:
CN116711
Finding
A functional abnormality of the `immune system` (FMA:9825).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGEctodermal dysplasia skin fragility syndrome

Recent clinical studies

Etiology

Tanaka A, Lai-Cheong JE, Café ME, Gontijo B, Salomão PR, Pereira L, McGrath JA
Br J Dermatol 2009 Mar;160(3):692-7. Epub 2008 Oct 21 doi: 10.1111/j.1365-2133.2008.08900.x. [Epub ahead of print] PMID: 19016709

Diagnosis

Boyce AE, McGrath JA, Techanukul T, Murrell DF, Chow CW, McGregor L, Warren LJ
Australas J Dermatol 2012 Feb;53(1):61-5. Epub 2011 Dec 29 doi: 10.1111/j.1440-0960.2011.00846.x. [Epub ahead of print] PMID: 22309335
Adhe VS, Dongre AM, Khopkar US
Indian J Dermatol Venereol Leprol 2011 Jul-Aug;77(4):503-6. doi: 10.4103/0378-6323.82415. PMID: 21727700
Bergman R, Sprecher E
Am J Dermatopathol 2005 Aug;27(4):333-8. PMID: 16121056

Clinical prediction guides

Bergman R, Sprecher E
Am J Dermatopathol 2005 Aug;27(4):333-8. PMID: 16121056
McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA
Nat Genet 1997 Oct;17(2):240-4. doi: 10.1038/ng1097-240. PMID: 9326952

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