Rapp-Hodgkin syndrome (RHS) is a rare type of autosomal dominant disorder characterized by association of ectodermal dysplasia (ED) with cleft lip/palate. The main features include dry, brittle hair with alopecia in adulthood, dental anomalies (hypodontia, microdontia with delayed eruption, fissured tongue, and retruded maxilla), hypohidrosis, dysplastic nails, and clefting. Palmar-plantar keratoderma is seen frequently. RHS has signs and symptoms that overlap considerably with those of ankyloblepharon-ED-clefting syndrome and ectrodactyly-ED-clefting syndrome. This manuscript discusses a case of RHS, one of the four members in three generations who had ED with variable degree of involvement of hair, teeth, nail, and sweat glands.
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A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
Eur J Med Genet
April 2024
Department of Pediatric Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Article Synopsis
- TP63-related disorders involve various symptoms like sparse hair, tooth issues, and cleft lip/palate, linked to mutations in the TP63 gene.
- These disorders include overlapping conditions such as AEC syndrome and EEC3 syndrome, which were diagnosed in patients from five unrelated families.
- Genetic analysis of the TP63 gene revealed multiple variants, indicating a strong genetic link to the observed symptoms, and should prompt doctors to consider these disorders when they see signs of ectodermal abnormalities or clefting.
We present the case of a 41-year-old man with Rapp-Hodgkin syndrome who underwent nasal septum deviation surgery under general anaesthesia. This syndrome is rare, with approximately 70 cases reported worldwide. It is one of a group of ectodermal dysplasia syndromes and results from the aberrant development of ectoderm during fetal development.
View Article and Find Full Text PDFUse of FACIAL ARTERY MUSCULOMUCOSAL and Turbinate Flaps for Rapp Hodgkin Syndrome.
World J Plast Surg
July 2022
Department of Hematology-Oncology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Rapp Hodgkin Syndrome (RHS), is a subtype of Ectodermal Dysplasias (EDs), which has various manifestation. Here, we report a case on repair of the palatal cleft in an 18 year old girl, having RHS, with combination of facial artery musculomucosal (FAMM) flap and inferior turbinate flaps (ITF), at Hazrat Fatima Hospital, Tehran, Iran in 2021.
View Article and Find Full Text PDFA novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia.
Hum Genome Var
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Department of Maternal-Fetal Biology, Research Institute, National Center for Child Health and Development, Tokyo, Japan.
Ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome are well-known TP63-related autosomal-dominant genetic disorders with various similar ectodermal dysplasias. In this study, whole-exome sequencing revealed a novel, potentially pathogenic TP63 nonsense variant (NM_001114980.2:c.
View Article and Find Full Text PDFRapp-Hodgkin syndrome (RHS) is a rare condition that is characterized by ectodermal dysplasia and palatal abnormalities. Palmoplantar keratoderma (PPK) is an unusual manifestation of hidrotic ED. Ulcerations on the palms are also not common in RHS.
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