Cardio‐cutaneous syndrome (the “LEOPARD” syndrome). Review of the literature and a new family

Abstract

Numerous reports of familial cardiac disorders associated with abnormalities of cutaneous pigmentation have appeared in the literature. In some of these there have been other somatic malformations including retardation of growth and anomalous development of the genitalia. In this paper we review the literature and describe another family with multiple lentigines occurring in six members out of eight examined. They were reported to occur in 10 other members not seen by us. The trait showed an autosomal dominant mode of inheritance and appeared to be transmitted by affected fathers. In previous reports transmission has usually been through an affected mother. In five of the six patients examined, only skin abnormalities were detected, but in the propositus the lentigines were associated with retardation of growth, hypertelorism, abnormal genitalia and complete atrioventricular block. The possible explanations for the lack of pleomorphy in other members of the family are discussed.

Generalized Solar Lentigines in a Patient with a History of Radon Exposure

“…Nevertheless most cases of widespread lentiginosis are associated with a variety of physical non-cutaneous abnormalities affecting the cardiac, musculoskeletal, neurological, reproductive, gastrointestinal and auditory system [21,22,23,24,25,26,27,28,29,30,31,32,33,34,35]. LEOPARD syndrome and Carney complex (LAMB and NAME syndrome) are well-characterized disorders, both showing autosomal dominant hereditary patterns [21,36,37].…”

Syndromic Hearing Loss in Association withPTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome

“…The disease is inherited in an autosomal dominant manner with variable penetrance and expressivity. Sporadic cases of LS have also been reported [2]. The diagnosis of LS is made based on clinical grounds, and molecular genetic analysis to detect disease-causing mutations is needed to confirm the diagnosis.…”

Sporadic case of eruptive lentiginosis caused by Thr468Met missense mutation in the PTPN11 gene in a Han Chinese patient: first report and systematic literature review

“…propylene glycol) and fragrances. 5 We have compiled a table of alcohol-based hand sanitizers/gels and their ingredients, which have recently been independently investigated to confirm their alcohol content or are available in a clinical setting. The ingredients for four sanitizers were not available online.…”

“…The relationship between EL and NSML has always been controversial. Arnsmeier and Paller 4 believed that the two syndromes are distinct entities, whereas Seuanez et al 5 considered that EL was a part of NSML. To address this dispute, we performed a comprehensive literature review.…”