Focal Dermal Hypoplasia (Goltz Syndrome) with Vertebral Solid Aneurysmal Bone Cyst Variant

D'Alise, Mark D.; Timmons, Charles F.; Swift, Dale M.

doi:10.1159/000121032

Cited by 10 publications

(4 citation statements)

References 5 publications

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“…Osteochondroma of the humerus has been reported in association with focal dermal hypoplaisa [23]. Vertebral solid aneurysmal bone cyst variant [24]. Truncus arteriosus and other lethal internal anomalies in Goltz syndrome [25].…”

Section: Discussionmentioning

confidence: 99%

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

Al Kaissi,

Ryabykh,

Kenis

et al. 2023

Children

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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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Section: Discussionmentioning

confidence: 99%

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

Al Kaissi,

Ryabykh,

Kenis

et al. 2023

Children

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“…Skin abnormalities have been noted in all but two of the reported cases and are the most typical defects of Goltz syndrome. These cutaneous abnormalities include dermal hypoplasia, atrophic pink or red macules, fat her- niations, and areas of altered skin pigmentation (Hall and Terezhalmy, 1983;Temple et al, 1990;Kilmer et al, 1993;D'Alise et al, 1996). Skeletal defects are the second most common abnormality in Goltz syndrome (Hall and Terezhalmy, 1983) and may include syndactyly, hypoplasia or absence of digits, other anomalies in the bones of the hands and feet, scoliosis (Kilmer et al, 1993), and asymmetries of the face, trunk, or extremities (Hall and Terezhalmy, 1983).…”

Section: Discussionmentioning

confidence: 99%

“…Goltz syndrome, also known as focal dermal hypoplasia, is a rare, X-linked dominant, multisystem disorder (Goltz et al, 1962;Gorlin et al, 1963;Hall and Terezhalmy, 1983;Temple et al, 1990;Arnold et al, 1993;Kilmer et al, 1993;D'Alise et al, 1996). The condition was first described by Goltz et al (1962) and Gorlin et al (1963) as a distinct entity consisting of ectodermal and mesodermal abnormalities.…”

mentioning

confidence: 99%

“…Rare male cases with half chromatid mutations, however, have survived birth (Temple et al, 1990;Kilmer et al, 1993). The hallmark of Goltz syndrome is dermal hypoplasia, with overlying linear skin hyperpigmentation and herniation of adipose tissue into the dermis (Kilmer et al, 1993;D'Alise et al, 1996). In addition to cutaneous abnormalities, patients with Goltz syndrome may have skeletal, ocular, oral, dental, and other soft tissue defects (Goltz et al, 1962;Gorlin et al, 1963;Hall and Terezhalmy, 1983;Temple et al, 1990;Arnold et al, 1993;Kilmer et al, 1993;D'Alise et al, 1996).…”

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confidence: 99%

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Extensive Facial Clefting in a Patient with Goltz Syndrome: Multidisciplinary Treatment of a Previously Unreported Association

Ascherman

Knowles

Troutman

2002

The Cleft Palate Craniofacial Journal

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Objective Goltz syndrome is a rare, X-linked dominant, multisystem disorder found almost exclusively in female patients. Although the cutaneous features predominate in most reports, characteristic abnormalities are also frequently present in the musculoskeletal system and facial region. We report a female infant born with a severe form of Goltz syndrome that included an extremely wide facial cleft, an abnormality not previously reported in a patient with this disorder. Her management demonstrates the advantages of a multidisciplinary approach to effectively care for patients with severe craniofacial abnormalities.

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