IllnessEktodermale Dysplasie, ohne An-/Hypohydrosis; Differentialdiagnose

NGS +

[Sanger]

The ectodermal dysplasias (EDs) comprise a large, heterogeneous group of hereditary and congenital disorders. They mainly affect the skin and its appendages (hair follicles, eccrine glands, sebaceous glands, nails) and the teeth. To date, about 200 different EDs have been described. For example, a very common form of ED is hidrotic ED (Clouston syndrome). Different classification principles for EDs are mainly based on clinical features or, more recently, on functional aspects. Pure EDs are manifested by defects in ectodermal structures alone, whereas ED syndromes are defined by the combination of ectodermal defects in conjunction with other abnormalities. All classical inheritance patterns are observed in EDs. The molecular genetic diagnostic yield is currently unknown. A negative molecular genetic result does not exclude the clinical diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK1200/

https://www.ncbi.nlm.nih.gov/books/NBK43797/

https://www.ncbi.nlm.nih.gov/books/NBK154653/

• Allelic: Bart-Pumphrey syndrome (GJB2)
• Allelic: Craniometaphyseal dysplasia, AR (GJA1)
• Allelic: Deafness, AD 3A (GJB2)
• Allelic: Deafness, AR 1A (GJB2)
• Allelic: Erythrokeratodermia variabilis et progressiva 3 (GJA1)
• Allelic: Oculodentodigital dysplasia (GJA1)
• Allelic: Oculodentodigital dysplasia, AR (GJA1)
• Allelic: Syndactyly, type III (GJA1)
• ADULT [acro-dermato-ungual-lacrimal-tooth] syndrome (TP63)
• Anonychia congenita (RSPO4)
• Cartilage-hair hypoplasia (RMRP)
• Cleft lip/palate-ectodermal dysplasia syndrome (NECTIN1)
• Congenital heart defects + ectodermal dysplasia (PRKD1)
• Ectodermal dysplasia 14, hair/tooth type with/-out hypohidrosis (TSPEAR)
• Ectodermal dysplasia 2, Clouston type (GJB6)
• Ectodermal dysplasia 3, Witkop type (MSX1)
• Ectodermal dysplasia 4, hair/nail type (KRT85)
• Ectodermal dysplasia 9, hair/nail type (HOXC13)
• Ectodermal dysplasia, ectrodactyly, macular dystrophy (CDH3)
• Ectodermal dysplasia-syndactyly syndrome 1 (NECTIN4)
• Ectodermal dysplasia/skin fragility syndrome (PKP1)
• Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (TP63)
• Erythrokeratodermia variabilis et progressiva 5 (KRT83)
• Focal dermal hypoplasia (PORCN)
• Hay-Wells syndrome (TP63)
• Hypotrichosis 1 (APCDD1)
• Hypotrichosis 11 (SNRPE)
• Hypotrichosis 2 (CDSN)
• Hypotrichosis 3 (KRT74)
• Hypotrichosis 4 (HR)
• Hypotrichosis 6 (DSG4)
• Hypotrichosis 7 (LIPH)
• Hypotrichosis 8 (LPAR6)
• Hypotrichosis, congenital, with juvenile macular dystrophy (CDH3)
• Hystrix-like ichthyosis with deafness (GJB2)
• Keratitis-ichthyosis-deafness syndrome (GJB2)
• Keratoderma, palmoplantar, with deafness (GJB2)
• Keratosis follicularis spinulosa decalvans, XL (MBTPS2)
• Limb-mammary syndrome (TP63)
• Marie Unna hereditary hypotrichosis (HR)
• Monilethrix (KRT81, KRT83, KRT86)
• Odontoonychodermal dysplasia (WNT10A)
• Orofacial cleft 7 (NECTIN1)
• Orofacial cleft 8 (TP63)
• Palmoplantar keratoderma with congenital alopecia (GJA1)
• Progressive cicatricial alopecia of the scalp (MBTPS2)
• Pure hair + nail ectodermal dysplasia, Ectodermal dysplasia 7, hair/nail type (KRT74)
• Rapp-Hodgkin syndrome (TP63)
• Schopf-Schulz-Passarge syndrome (WNT10A)
• Split-hand/foot malformation 4 (TP63)
• Tooth agenesis, selective, 4 (WNT10A)
• Vohwinkel syndrome (GJB2)
• Woolly hair, AR 1, with/-out hypotrichosis (LPAR6)
• Woolly hair, AR 2 with/-out hypotrichosis (LIPH)
• Woolly hair, AR 3 (KRT25)