Focal Dermal Hypoplasia (Goltz Syndrome): A Case Report Showing a Wide Variety of Systemic and Oral Manifestations

Nobre, Átila Vinícius Vítor; Taba, Mário; Ribeiro‐Silva, Alfredo; Souza, Sérgio Luı́s Scombatti de; Motta, Ana Carolina Fragoso

doi:10.5021/ad.20.120

Cited by 3 publications

(2 citation statements)

References 21 publications

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“…The histopathology showed hyper-parakeratotic stratified squamous epithelium with melanin pigment in the basal cell layer and flattened rete ridges. Similar histological findings of gingival lesions were reported by Nobre et al 20. However, the presence of melanin pigment was not described.…”

Section: Discussionsupporting

confidence: 83%

“…However, the presence of melanin pigment was not described. Facial asymmetry, cleft lip and palate, malocclusion, supernumerary teeth, intraoral papilloma, and oligodontia were the other significant dental manifestations reported in Goltz syndrome 7 10 14 20 21. These findings were not evident in the present case, however, a longer follow-up of the patient is required.…”

Section: Discussioncontrasting

confidence: 46%

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Dentofacial manifestations of a Paediatric patient with Goltz–Gorlin Syndrome

Tupper,

Devi K,

Rahul

et al. 2024

BMJ Case Rep

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Goltz–Gorlin syndrome is a rare X-linked inherited disorder associated with PORCN (porcupine homolog—Drosophila) gene mutation. It primarily affects the skin and its appendages. The characteristic cutaneous features include a blaschko-linear pattern, skin atrophy, pigmentary changes, and telangiectasia. The oral manifestations have been reported in more than half of the affected individuals. The most common oral findings include enamel hypoplasia, hypodontia, supernumerary teeth, microdontia, vertical grooving of the teeth, taurodontism, fusion, and abnormal root morphology reported in sporadic cases. The objective of this case report is to describe the dentofacial characteristics of a middle childhood aged girl with Goltz–Gorlin syndrome.

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Section: Discussionsupporting

confidence: 83%

Section: Discussioncontrasting

confidence: 46%

Dentofacial manifestations of a Paediatric patient with Goltz–Gorlin Syndrome

Tupper,

Devi K,

Rahul

et al. 2024

BMJ Case Rep

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Focal dermal hypoplasia (Goltz Syndrome): A preterm neonate with multisystem anomalies—A case report

Mohamed,

Hagos,

Seyoum

et al. 2024

SAGE Open Medical Case Reports

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Goltz syndrome is a rare condition characterized by thinning of the skin, which leads to the herniation of fat and results in both skin and systemic abnormalities. The primary cause of this syndrome is the mutation of the PORCN gene, which is associated with the X chromosome. A newborn baby was admitted to the neonatal intensive care unit due to skeletal and skin abnormalities. The major findings in this patient included anophthalmia, microform cleft lip, subcutaneous fat herniation, and split foot. An abdominal ultrasound examination revealed a solitary right kidney and an echocardiogram showed patent ductus arteriosus. The patient was treated for neonatal sepsis, and the family received counseling about the disease. We report this case because of its exceptional rarity.

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Prevention and treatment of microstomia

Ki,

Park

2024

Arch Craniofac Surg

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The mouth, located in the lower third of the face, is a uniquely visible structure. It serves as a vital organ both aesthetically and functionally, playing a key role in speech, expression, and fundamental oral functions. Consequently, any alterations or defects in its shape, due to various causes, can lead to aesthetic and functional deficiencies. These issues may also result in challenges with social interactions and a decrease in confidence. In cases of microstomia, various surgical approaches are proposed based on the location, extent, shape, and cause of the defect, leading to numerous case reports. Plastic surgeons are proficient in oral reconstruction; however, cases of microstomia are relatively rare, which reduces their familiarity and interest in these cases. Additionally, preferences for oral size and shape vary according to factors such as geographical region and ethnicity, further complicating the functional definition of microstomia. Therefore, both subjective patient and physician judgments play crucial roles in the diagnosis and treatment of microstomia, as these may vary depending on individual and societal aspects. This review aims to classify the various causes and definitions of microstomia, as well as its non-surgical and surgical treatment options, with the goal of the treatment of this condition.

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Focal Dermal Hypoplasia (Goltz Syndrome): A Case Report Showing a Wide Variety of Systemic and Oral Manifestations

Cited by 3 publications

References 21 publications

Dentofacial manifestations of a Paediatric patient with Goltz–Gorlin Syndrome

Dentofacial manifestations of a Paediatric patient with Goltz–Gorlin Syndrome

Focal dermal hypoplasia (Goltz Syndrome): A preterm neonate with multisystem anomalies—A case report

Prevention and treatment of microstomia

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