Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz–Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature

Objective: To report a case of unilateral tonsillar hypertrophy resulting in severe Obstructive Sleep Apnea in a 4-year-old girl with focal dermal hypoplasia (FDH, Goltz or Goltz-Gorlin) Syndrome. Methods: Design: Case Report Setting: Tertiary Teaching Hospital Subject: One Results: A 4-year-old girl with Goltz Syndrome (classical features of cutaneous and osteopathic disorders since birth) and unilateral tonsillar hypertrophy manifested with snoring and apneic episodes at two years of age. Polysomnography revealed severe Obstructive Sleep Apnea, and Arterial Blood Gases revealed metabolic acidosis with hypoxemia. A tonsillectomy and adenoidectomy improved breathing, appetite and sleep with resolution of snoring and apneic spells and final tonsil histopathology revealed lymphoepithelial polyp. Conclusion: A 4-year-old child with Goltz syndrome, who developed severe obstructive sleep apnea due to tonsillar hypertrophy was presented. Otolaryngologists should be aware of this syndrome, which may manifest with oral and mucosal lesions. Although rare, Goltz syndrome may be considered in the differential diagnosis of tonsillar hypertrophy especially in the presence of the inherent clinical features. Physicians should educate patients and address the co-morbidities associated with it through individualized treatment. Keywords: Focal Dermal Hypoplasia, Unilateral Tonsillar Hypertrophy, Goltz Syndrome, Goltz-Gorlin Syndrome

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Corneal Abnormalities in a Mother and Daughter With Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome)

American Journal of Ophthalmology ◽

10.1016/s0002-9394(14)72621-2 ◽

1995 ◽

Vol 120 (2) ◽

pp. 256-258 ◽

Cited By ~ 9

Author(s):

Gregg T. Lueder ◽

Robert D. Steiner

Keyword(s):

Gorlin Syndrome ◽

Focal Dermal Hypoplasia ◽

Mother And Daughter

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A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report

Cytogenetic and Genome Research ◽

10.1159/000487580 ◽

2018 ◽

Vol 154 (3) ◽

pp. 119-121

Author(s):

Ceren D. Durmaz ◽

John McGrath ◽

Lu Liu ◽

Halil G. Karabulut

Keyword(s):

Case Report ◽

Frameshift Mutation ◽

Stop Codon ◽

Novel Mutation ◽

Premature Stop Codon ◽

Clinical Findings ◽

Gorlin Syndrome ◽

Focal Dermal Hypoplasia ◽

Skeletal Defects ◽

The Right

Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11.23, and 90% of individuals with FDH are females. Here, we report a female patient with cutaneous changes, multiple eye anomalies, short stature, and ectrodactyly of the right foot. These clinical findings were compatible with the diagnosis of FDH, and a novel mutation, NM_022825.3:c.488delG was found in the PORCN gene causing a premature stop codon.

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