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Epidermolysis bullosa simplex with mottled pigmentation(EBS-MP)

MedGen UID:
140934
Concept ID:
C0432316
Disease or Syndrome
Synonyms: EBS with mottled pigmentation; EBS-MP; SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES AND CHILDHOOD BLISTERING; Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Epidermolysis bullosa simplex with mottled pigmentation (254180002); Simple epidermolysis bullosa with mottled pigmentation (254180002)
 
Gene (location): KRT5 (12q13.13)
OMIM®: 131960
Orphanet: ORPHA79397

Disease characteristics

Excerpted from the GeneReview: Epidermolysis Bullosa Simplex
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some cases) that results in nonscarring blisters caused by little or no trauma. The current classification of epidermolysis bullosa (EB) includes two major types and 12 minor subtypes of EBS; all share the common feature of blistering above the dermal-epidermal junction at the ultrastructural level. The four most common subtypes of EBS are the focus of this GeneReview: EBS, localized (EBS-loc; previously known as Weber-Cockayne type). EBS, Dowling-Meara type (EBS-DM). EBS, other generalized (EBS, gen-nonDM; previously known as Koebner type). EBS-with mottled pigmentation (EBS-MP) . The phenotypes for these subtypes range from relatively mild blistering of the hands and feet to more generalized blistering, which can be fatal. In EBS-loc, blisters are rarely present or minimal at birth and may occur on the knees and shins with crawling or on the feet at approximately age18 months; some individuals manifest the disease in adolescence or early adulthood. Blisters are usually confined to the hands and feet, but can occur anywhere if trauma is significant. In EBS, gen-non DM, blisters may be present at birth or develop within the first few months of life. Involvement is more widespread than in EBS-loc, but generally milder than in EBS-DM. In EBS-MP, skin fragility is evident at birth and clinically indistinguishable from EBS-DM; over time, progressive brown pigmentation interspersed with hypopigmented spots develops on the trunk and extremities, with the pigmentation disappearing in adult life. Focal palmar and plantar hyperkeratoses may occur. In EBS-DM, onset is usually at birth; severity varies greatly, both within and among families. Widespread and severe blistering and/or multiple grouped clumps of small blisters are typical and hemorrhagic blisters are common. Improvement occurs during mid- to late childhood. EBS-DM appears to improve with warmth in some individuals. Progressive hyperkeratosis of the palms and soles begins in childhood and may be the major complaint of affected individuals in adult life. Nail dystrophy and milia are common. Both hyper- and hypopigmentation can occur. Mucosal involvement in EBS-DM may interfere with feeding. Blistering can be severe enough to result in neonatal or infant death. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Ellen G Pfendner  |  Anna L Bruckner   view full author information

Additional description

From GHR
Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) occur in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering primarily affects the hands and feet in mild cases, and the blisters usually heal without leaving scars. Severe cases of this condition involve widespread blistering that can lead to infections, dehydration, and other medical problems. Severe cases may be life-threatening in infancy. Researchers have identified four major types of epidermolysis bullosa simplex. Although the types differ in severity, their features overlap significantly, and they are caused by mutations in the same genes. Most researchers now consider the major forms of this condition to be part of a single disorder with a range of signs and symptoms. The mildest form of epidermolysis bullosa simplex, known as the localized type (formerly called the Weber-Cockayne type), is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet. Later in life, skin on the palms of the hands and soles of the feet may thicken and harden (hyperkeratosis). The Dowling-Meara type is the most severe form of epidermolysis bullosa simplex. Extensive, severe blistering can occur anywhere on the body, including the inside of the mouth, and blisters may appear in clusters. Blistering is present from birth and tends to improve with age. Affected individuals also experience abnormal nail growth and hyperkeratosis of the palms and soles. Another form of epidermolysis bullosa simplex, known as the other generalized type (formerly called the Koebner type), is associated with widespread blisters that appear at birth or in early infancy. The blistering tends to be less severe than in the Dowling-Meara type. Epidermolysis bullosa simplex with mottled pigmentation is characterized by patches of darker skin on the trunk, arms, and legs that fade in adulthood. This form of the disorder also involves skin blistering from early infancy, hyperkeratosis of the palms and soles, and abnormal nail growth. In addition to the four major types described above, researchers have identified another skin condition related to epidermolysis bullosa simplex, which they call the Ogna type. It is caused by mutations in a gene that is not associated with the other types of epidermolysis bullosa simplex. It is unclear whether the Ogna type is a subtype of epidermolysis bullosa simplex or represents a separate form of epidermolysis bullosa. Several other variants of epidermolysis bullosa simplex have been proposed, but they appear to be very rare.  http://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex

Clinical features

Hypopigmented skin patches
MedGen UID:
373164
Concept ID:
C1836735
Finding
Mottled pigmentation of the trunk and proximal extremities
MedGen UID:
342031
Concept ID:
C1851551
Finding
Discrete 2 to 5-mm hyper- and hypopigmented macules
MedGen UID:
342032
Concept ID:
C1851552
Finding
Nail dysplasia
MedGen UID:
384044
Concept ID:
C1857047
Finding
Prematurely aged appearance
MedGen UID:
346633
Concept ID:
C1857656
Finding
Palmoplantar keratoderma
MedGen UID:
400147
Concept ID:
C1862859
Finding
Bruising susceptibility
MedGen UID:
504672
Concept ID:
CN000916
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Abnormality of the fingernails
MedGen UID:
446395
Concept ID:
CN001134
Finding
An abnormality of the fingernails.
Thick nail
MedGen UID:
504956
Concept ID:
CN001635
Finding
Nail that appears thick when viewed on end.
Punctate palmoplantar hyperkeratosis
MedGen UID:
446832
Concept ID:
CN006604
Finding
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.
Nail dystrophy
MedGen UID:
506219
Concept ID:
CN007394
Finding
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.
Bruising susceptibility
MedGen UID:
504672
Concept ID:
CN000916
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Bruising susceptibility
MedGen UID:
504672
Concept ID:
CN000916
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Punctate palmoplantar hyperkeratosis
MedGen UID:
446832
Concept ID:
CN006604
Finding

Recent clinical studies

Etiology

Horiguchi Y, Sawamura D, Mori R, Nakamura H, Takahashi K, Shimizu H
J Invest Dermatol 2005 Jul;125(1):83-5. doi: 10.1111/j.0022-202X.2005.23790.x. PMID: 15982306
Irvine AD, McKenna KE, Jenkinson H, Hughes AE
J Invest Dermatol 1997 May;108(5):809-10. PMID: 9129237
Uttam J, Hutton E, Coulombe PA, Anton-Lamprecht I, Yu QC, Gedde-Dahl T Jr, Fine JD, Fuchs E
Proc Natl Acad Sci U S A 1996 Aug 20;93(17):9079-84. PMID: 8799157Free PMC Article

Diagnosis

Echeverría-García B, Vicente A, Hernández Á, Mascaró JM, Colmenero I, Terrón A, Escámez MJ, del Río M, González-Enseñat MA, Torrelo A
Pediatr Dermatol 2013 Nov-Dec;30(6):e125-31. Epub 2012 May 29 doi: 10.1111/j.1525-1470.2012.01748.x. [Epub ahead of print] PMID: 22640275
Browning JC, Mohr B
Dermatol Online J 2012 Jan 15;18(1):9. PMID: 22301046
Gray C, Greenlaw SM, Alavian C, Wiss K
J Drugs Dermatol 2011 Aug;10(8):926-7. PMID: 21818518
Glàsz-Bóna A, Medvecz M, Virágh Z, Hatvani Z, Blazsek A, Kárpáti S
Eur J Dermatol 2010 Nov-Dec;20(6):698-700. Epub 2010 Oct 5 doi: 10.1684/ejd.2010.1080. [Epub ahead of print] PMID: 20923750
Hamada T, Yasumoto S, Karashima T, Ishii N, Shimada H, Kawano Y, Imayama S, McGrath JA, Hashimoto T
Br J Dermatol 2007 Sep;157(3):605-8. Epub 2007 Jul 16 doi: 10.1111/j.1365-2133.2007.08086.x. [Epub ahead of print] PMID: 17635506

Prognosis

Richardson ES, Lee JB, Hyde PH, Richard G
J Invest Dermatol 2006 Jan;126(1):79-84. doi: 10.1038/sj.jid.5700025. PMID: 16417221

Clinical prediction guides

Richardson ES, Lee JB, Hyde PH, Richard G
J Invest Dermatol 2006 Jan;126(1):79-84. doi: 10.1038/sj.jid.5700025. PMID: 16417221
Irvine AD, Rugg EL, Lane EB, Hoare S, Peret C, Hughes AE, Heagerty AH
Br J Dermatol 2001 Jan;144(1):40-5. PMID: 11167681
Uttam J, Hutton E, Coulombe PA, Anton-Lamprecht I, Yu QC, Gedde-Dahl T Jr, Fine JD, Fuchs E
Proc Natl Acad Sci U S A 1996 Aug 20;93(17):9079-84. PMID: 8799157Free PMC Article

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