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Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia

Background: The diagnostic process for children and adults manifesting a constellation of ectodermal abnormalities requires a conscientious and highly structured process. Material and Methods: Six girls (aged 6-month–8 years) and two older girls (aged 13 and 16 years) were born with variable skin le...

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Autores principales: Al Kaissi, Ali, Ryabykh, Sergey, Kenis, Vladimir, Ben Chehida, Farid, Al Kaissi, Hamza, Kircher, Susanne Gerit, Grill, Franz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605362/
https://www.ncbi.nlm.nih.gov/pubmed/37892378
http://dx.doi.org/10.3390/children10101715
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author Al Kaissi, Ali
Ryabykh, Sergey
Kenis, Vladimir
Ben Chehida, Farid
Al Kaissi, Hamza
Kircher, Susanne Gerit
Grill, Franz
author_facet Al Kaissi, Ali
Ryabykh, Sergey
Kenis, Vladimir
Ben Chehida, Farid
Al Kaissi, Hamza
Kircher, Susanne Gerit
Grill, Franz
author_sort Al Kaissi, Ali
collection PubMed
description Background: The diagnostic process for children and adults manifesting a constellation of ectodermal abnormalities requires a conscientious and highly structured process. Material and Methods: Six girls (aged 6-month–8 years) and two older girls (aged 13 and 16 years) were born with variable skin lesions of varying intensities associated with noticeable cranial and skeletal malformation complexes. Cleft palate, abnormal dentition, and multiple papillomas were evident around the mouth, mostly bilateral but asymmetrical in the upper and lower limbs. Exaggerated frontal bossing (macrocephaly) and in some patients’ microcephaly with variable skeletal defects of the craniocervical junction and diverse forms of lower limb deformities of syndactyly, polydactyly, and split-hand/foot (ectrodactyly). Results: All patients manifested the constellation of abnormalities with variable intensities ranging between alopecia, papillomas, striated skin pigmentations split-hand/foot (ectrodactyly), and major bone defects. A 3D reconstruction CT scan was directed mainly to further scrutinize children with pseudo cleft lip, submucus cleft, and cleft palate. Interstingly, they manifested massive demineralization of the cranium associated with severely defective dentition. A spine 3D reconstruction CT scan in two girls showed marked cystic cavitation of the upper jaw associated with excessive cavitation of the mastoid, causing tremendous frailty of the mastoid bone. A 3D sagittal CT scan showed odontoid hypoplasia and C1-2 instability associated with the rudimentary atlas and the persistence of extensive synchondrosis of the cervico-thoracic spine. The overall clinical and radiological phenotypic characterizations were consistent with the diagnosis of focal dermal hypoplasia (Goltz syndrome). Two children manifested heterozygous mutations in the PORCN gene, chromosome Xp11. Conclusions: In this study, we believe it’s a good opportunity to share our novel scientific findings, which are intriguing and can be inspiring to readers, and to further aid the current scientific literature with exceptionally new unveiling results. This is the first comprehensive study of the cranio-skeletal malformation complex in children with GS.
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spelling pubmed-106053622023-10-28 Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia Al Kaissi, Ali Ryabykh, Sergey Kenis, Vladimir Ben Chehida, Farid Al Kaissi, Hamza Kircher, Susanne Gerit Grill, Franz Children (Basel) Article Background: The diagnostic process for children and adults manifesting a constellation of ectodermal abnormalities requires a conscientious and highly structured process. Material and Methods: Six girls (aged 6-month–8 years) and two older girls (aged 13 and 16 years) were born with variable skin lesions of varying intensities associated with noticeable cranial and skeletal malformation complexes. Cleft palate, abnormal dentition, and multiple papillomas were evident around the mouth, mostly bilateral but asymmetrical in the upper and lower limbs. Exaggerated frontal bossing (macrocephaly) and in some patients’ microcephaly with variable skeletal defects of the craniocervical junction and diverse forms of lower limb deformities of syndactyly, polydactyly, and split-hand/foot (ectrodactyly). Results: All patients manifested the constellation of abnormalities with variable intensities ranging between alopecia, papillomas, striated skin pigmentations split-hand/foot (ectrodactyly), and major bone defects. A 3D reconstruction CT scan was directed mainly to further scrutinize children with pseudo cleft lip, submucus cleft, and cleft palate. Interstingly, they manifested massive demineralization of the cranium associated with severely defective dentition. A spine 3D reconstruction CT scan in two girls showed marked cystic cavitation of the upper jaw associated with excessive cavitation of the mastoid, causing tremendous frailty of the mastoid bone. A 3D sagittal CT scan showed odontoid hypoplasia and C1-2 instability associated with the rudimentary atlas and the persistence of extensive synchondrosis of the cervico-thoracic spine. The overall clinical and radiological phenotypic characterizations were consistent with the diagnosis of focal dermal hypoplasia (Goltz syndrome). Two children manifested heterozygous mutations in the PORCN gene, chromosome Xp11. Conclusions: In this study, we believe it’s a good opportunity to share our novel scientific findings, which are intriguing and can be inspiring to readers, and to further aid the current scientific literature with exceptionally new unveiling results. This is the first comprehensive study of the cranio-skeletal malformation complex in children with GS. MDPI 2023-10-22 /pmc/articles/PMC10605362/ /pubmed/37892378 http://dx.doi.org/10.3390/children10101715 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Al Kaissi, Ali
Ryabykh, Sergey
Kenis, Vladimir
Ben Chehida, Farid
Al Kaissi, Hamza
Kircher, Susanne Gerit
Grill, Franz
Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
title Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
title_full Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
title_fullStr Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
title_full_unstemmed Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
title_short Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
title_sort cutaneous, cranial, and skeletal defects in children and adults with focal dermal hypoplasia
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605362/
https://www.ncbi.nlm.nih.gov/pubmed/37892378
http://dx.doi.org/10.3390/children10101715
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