Lelis syndrome

Lelis syndrome
Other names	Ectodermal dysplasia-acanthosis nigricans syndrome

This condition is inherited in an autosomal recessive manner.
Specialty	Medical genetics

Lelis syndrome is a genetic disorder, a rare condition with dermatological and dental findings^[1] characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit,^[2] disturbances of skin pigmentation (perioral and periorbital hyperpigmentation, vitiligo, and perinevic leukoderma)^[2] and hypodontia. Transmission is autosomal recessive.^[1]^[3]

References

^ ^a ^b Samdani AJ (October 2004). "Ectodermal dysplasia with acanthosis nigricans (Lelis' syndrome)". J Coll Physicians Surg Pak. 14 (10): 626–7. PMID 15456556.
^ ^a ^b Lelis J (June 1992). "Autosomal recessive ectodermal dysplasia". Cutis. 49 (6): 435–7. PMID 1628512.
^ Steiner CE, Cintra ML, Marques-de-Faria AP (December 2002). "Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome)". Am. J. Med. Genet. 113 (4): 381–4. doi:10.1002/ajmg.b.10787. PMID 12457412.

Congenital malformations and deformations of integument / skin disease

AD	Ichthyosis vulgaris
AR	Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin-type ichthyosis Netherton syndrome CHIME syndrome Sjögren–Larsson syndrome
XR	X-linked ichthyosis
Ungrouped	Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix

EB
and related

Other

Developmental
anomalies

Midline	Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii
Nevus	Capillary hemangioma Port-wine stain Nevus flammeus nuchae
Other/ungrouped	Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark

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This page was last edited on 6 May 2024, at 02:14

Classification	D OMIM: 608290 MeSH: C564261
External resources	Orphanet: 140936