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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
1 OMIM reference -
2 associated genes
96 signs/symptoms
Epidermolysis bullosa simplex with mottled pigmentation
Proteus syndrome

KRT14 AKT1
KRT5 PTEN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT14
(0.63)
PTEN



Citations in the biomedical literature:


Epidermolysis bullosa simplex with mottled pigmentation
KRT14 KRT5
Proteus syndrome
AKT1 PTEN



Epidermolysis bullosa simplex with mottled pigmentation
Proteus syndrome

Synonym(s):
- EBS-MP

Synonym(s):
- Partial gigantism - nevi - hemihypertrophy - macrocephaly

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: C535959
External references:
1 OMIM reference -
1 MeSH reference: D016715


COMMON
SIGNS
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Autosomal dominant inheritance
- Follicular / erythematous / edematous papules / milium
- Nails anomalies


Epidermolysis bullosa simplex with mottled pigmentation
Proteus syndrome

Very frequent
- Irregular / patchy skin hypopigmentation
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Abnormal fingernails
- Bruisability
- Palmoplantar hyperkeratosis / keratoderma
- Premature ageing



Very frequent
- Abnormal fat distribution / lipodystrophy
- Abnormal vertebral size / shape
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Asymmetric rib cage / thorax
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Irregular / in bands / reticular skin hyperpigmentation
- Kyphosis
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Lymphangioma / lymphatic malformations
- Macrodactyly / fingers hypertrophy / megalodactyly (hand)
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Pigmented naevi / naevus pigmentosus / lentigo
- Scoliosis
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Tall stature / gigantism / growth acceleration
- Thick skin / pachydermia / orange skin
- Upper limb asymmetry / hemiatrophy / hemihypertrophy
- Vascular anomalies of skin / mucosae
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Xanthomas / lipomas

Frequent
- Bronchogenic cyst
- Cafe-au-lait spot
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Dolichocephaly / scaphocephaly
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hyperostosis
- Hypertelorism
- Lymphedema
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Pulmonary thromboembolism
- Syndactyly of fingers / interdigital palm
- Visceral angiomatosis (excluding skin)

Occasional
- Abnormal / polycystic ovaries
- Anodontia / oligodontia / hypodontia
- Anomalies of the neck
- Anteverted nares / nostrils
- Arterial embolism / thrombosis
- Buphthalmos
- Cataract / lens opacification
- Clinodactyly of fifth finger
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Congenital cardiac anomaly / malformation / cardiopathy
- Craniostenosis / craniosynostosis / sutural synostosis
- Depressed nasal bridge
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Enamel anomaly
- Exostoses
- External auditory canal atresia / stenosis / agenesis
- Flared / thick ala nasi
- Follicular / conjunctival hamartomas
- Glaucoma
- Hallux valgus
- Heterochromia / mixed colouring of iris
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hirsutism / hypertrichosis / Increased body hair
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long face
- Low set ears / posteriorly rotated ears
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Macroorchidism / macrotestes
- Macropenis / megapenis / large penis
- Meningioma
- Multiple caries
- Myopathy
- Myopia
- Oropharyngeal neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Proptosis / exophthalmos
- Ptosis
- Renal cyst (single)
- Restricted joint mobility / joint stiffness / ankylosis
- Retinal detachment
- Retinal hamartoma
- Retinitis pigmentosa / retinal pigmentary changes
- Retinoschisis / retinal / chorioretinal coloboma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sirenomelia / mermaid / lower limb fusion
- Splenomegaly
- Strabismus / squint
- Structural and functional anomalies of the spleen
- Talipes-valgus
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Thymic hyperplasia
- Thymus / thymic neoplasm / tumor / carcinoma / cancer / thymoma
- Venous thrombosis / phlebitis / thrombophlebitis
- Wrist / carpal anomalies