Table 2.
Pili torti in ectodermal dysplasias.
| Disease/Syndrome | Genetic Defect, Inheritance | Other Clinical Findings | Other Hair Shaft Abnormalities |
|---|---|---|---|
| Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome [60] | TP63 gene (AD) | hypoplastic maxilla, palmoplantar hyperkeratosis, dystrophic nails, cleft lip/palate, dental anomalies, ankyloblepharon, lacrimal duct atresia, auricular abnormalities | pili canaliculi, trichoclasis, trichorrhexis nodosa, pili annulati, pili triangulati |
| Basan syndrome [61] | SMARCAD1 gene (AD) | neonatal blisters and milia, adermatoglyphia, traumatic blistering and fissuring, hypohidrosis | - |
| Cleft lip/palate-ectodermal dysplasia syndrome [25] | PVRL1 gene (AR) | mental retardation, facial dysmorphism (protruding and malformed ears, micrognathia, bilateral cleft lip/palate), syndactyly, palmoplantar keratoderma, hypohidrosis, teeth, and nail anomalies | - |
| Ectodermal dysplasia 4, hair/nail type [62] | KRT85, KRT74, HOXC13 genes (AR) | congenital nail dystrophy | - |
| Ectodermal dysplasia with corkscrew hairs [26,63] | NK (AR) | facial dysmorphism, cleft lip/palate, scalp keloids, follicular plugging, keratosis pilaris, xerosis, eczema, palmoplantar keratodermia, cutaneous syndactyly, onychodysplasia, teeth abnormalities | - |
| Ectodermal dysplasia with syndactyly [25] | PVRL-4 gene (AR) | highly arched palate, teeth abnormalities, syndactyly, hypoplastic nails, dry skin with hyperkeratosis | - |
| Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 [64] | EEC3 gene (AD) | hearing loss, cleft lip/palate, dysplastic teeth, ectrodactyly, syndactyly, nail dystrophy, hypopigmentated skin, hyperkeratosis, skin atrophy, genitourinary anomalies | pseudomoniletrix, pili canaliculi, longitudinal grooving, trichothiodystrophy |
| Goltz syndrome [65] | PORCN gene (XD) | cleft palate, syndactyly, polydactyly, skin atrophy, telangiectasia, herniation of fat, papillomas, nail and teeth anomalies, ocular anomalies (coloboma of iris and choroid, strabismus, microphthalmia) | atrophic hair with reduced diameters, flattened hair shafts, trichorrhexis nodosa, pili trianguli et canaliculi |
| Hidrotic ectodermal dysplasia [66,67,68] | GJB6 gene (AD) | short stature, clubbed digits, palmoplantar hyperkeratosis, hyperpigmentation, nail dystrophy, cataract, photophobia, strabismus | trichorrhexis nodosa, trichoptilosis, pili bifurcati, variable diameter, damaged cuticles, irregular helical twists, pili canaliculi |
| Hypohidrotic Ectodermal Dysplasia [12] | EDA1/EDAR, EDARADD, WNT10A genes (XR, AR, AD) | facial dysmorphism (prominent forehead, thick lips, flattened nasal bridge), teeth abnormalities, hypohidrosis | trichorrhexis nodosa, pili bifurcati, variable shaft thickness |
| Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome [25] | NK gene (AD) | onychogryphosis, acroosteolysis, linear or reticular palmoplantar keratoderma and erythematous, psoriasis-like skin lesions, periodontitis, premature teeth loss, lingua plicata, ventricular tachycardia | pili annulati |
| Oculo-dento-digital syndrome [69,70] | GJA1 gene (AD, AR) | facial dysmorphism (narrow, pinched nose, hypoplastic alae nasi, prominent columella, narrow nasal bridge), microphthalmia, microdontia, syndactyly, camptodactyly, clinodactyly, brittle nails | “tiger tail” aspect, monilethrix, pili annulati |
| Pachyonychia congenita-2 [71,72,73] | KRT17 gene (AD) | palmoplantar hyperkeratosis, nail dystrophy, hyperhidrosis, cystic lesions (steatocystoma multiplex, pilosebaceous cysts), folliculitis, natal teeth | - |
| Rapp-Hodgkin syndrome [74,75] | TP63 gene (AD) | short stature, hypohidrosis, facial dysmorphism (narrow nose, small mouth, cleft lip, hypoplastic maxilla, prominent, malformed auricles), dysplastic nails, teeth abnormalities, chronic epiphora | pili canaliculi |
| Reeds syndrome [76] | NK (AD) | lobster claw deformity, nasolacrimal obstruction, cleft lip/palate, teeth abnormalities | - |
| Salamon syndrome [77] | NK (AR) | everted lower lip, teeth abnormalities, protruding ears | - |
| Schöpf-Schulz-Passarge syndrome [78] | WNT10A gene (AR) | Palmoplantar keratoderma, nail dystrophy, hypodontia, eyelid cysts | - |
| Trichodysplasia-xeroderma [79] | NK (AD) | dry skin | trichorrhexis nodosa |
AD, autosomal dominant; AR, autosomal recessive; NK, not known; XD, X-linked dominant; XR, X-linked recessive.