{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T14:45:55Z","timestamp":1790952355990,"version":"4.1.0"},"reference-count":35,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T00:00:00Z","timestamp":1697932800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>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\u20138 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\u2019 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\u2019s 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.<\/jats:p>","DOI":"10.3390\/children10101715","type":"journal-article","created":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T07:02:53Z","timestamp":1697958173000},"page":"1715","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1599-6050","authenticated-orcid":false,"given":"Ali","family":"Al Kaissi","sequence":"first","affiliation":[{"name":"National Medical Research Center for Traumatology and Orthopedics, 640014 Kurgan, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey","family":"Ryabykh","sequence":"additional","affiliation":[{"name":"Veltischev Clinical Institute, Pirogov Russian National Research Medical University, 117997 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7651-8485","authenticated-orcid":false,"given":"Vladimir","family":"Kenis","sequence":"additional","affiliation":[{"name":"Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Pediatric Orthopedic Institute, Parkovaya Str., 64-68, Pushkin, 196605 Saint Petersburg, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farid","family":"Ben Chehida","sequence":"additional","affiliation":[{"name":"Ibn Zohr Institute of Diagnostic Radiology, Cite Al Khadra, Tunis 1003, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamza","family":"Al Kaissi","sequence":"additional","affiliation":[{"name":"Clinic for Dermatology and Allergology, Luisen Hospital, 52064 Aachen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0127-5837","authenticated-orcid":false,"given":"Susanne Gerit","family":"Kircher","sequence":"additional","affiliation":[{"name":"Center of Medical Patho-Biochemistry and Genetics, Medical University of Vienna, 1090 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franz","family":"Grill","sequence":"additional","affiliation":[{"name":"Pediatric Department, Orthopedic Hospital of Speising, 1130 Vienna, Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1001\/archderm.1962.01590120006002","article-title":"Focal dermal hypoplasia syndrome: A review of the literature and report of two cases","volume":"86","author":"Goltz","year":"1962","journal-title":"Arch. 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A"}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/10\/10\/1715\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T21:09:58Z","timestamp":1760130598000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/10\/10\/1715"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,22]]},"references-count":35,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2023,10]]}},"alternative-id":["children10101715"],"URL":"https:\/\/doi.org\/10.3390\/children10101715","relation":{},"ISSN":["2227-9067"],"issn-type":[{"value":"2227-9067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,22]]}}}