Latest papers

Complex case study: nursing care of an infant with restrictive dermopathy.

[Two patients with cutaneous manifestations of Edwards syndrome].

Macrocephaly-cutis marmorata telangiectatica congenita.

Congenital symblephara, progressive corneal pannus, and skin defects.

Distinctive findings in a patient with Axenfeld-Rieger syndrome using high-resolution AS-OCT.

Defect of hepatocyte growth factor activator inhibitor type 1/serine protease inhibitor, Kunitz type 1 (Hai-1/Spint1) leads to ichthyosis-like condition and abnormal hair development in mice.

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.

Pericallosal lipoma associated with Pai syndrome: prenatal imaging findings.

[Grouped congenital skin depressions: a case with five dimples in an atypical location].

Four limb syndactyly, constriction rings and skin tags; amniotic bands or disorganization-like syndrome.

Infrared thermography: experience from a decade of pediatric imaging.

Corneal pathology in microphthalmia with linear skin defects syndrome.

VE-statin/egfl7 regulates vascular elastogenesis by interacting with lysyl oxidases.

Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations.

Costello syndrome: clinical diagnosis in the first year of life.

KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.

Gene symbol: MAP2K1. Disease: Cardio-Facio-Cutaneous syndrome.

Gene symbol: MAP2K2. Disease: Cardio-Facio-Cutaneous syndrome.

Bi-acromial dimples.

Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology.