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Lookup NU author(s): Dr Katie BestORCiD, Dr Suzy Leech, Dr Brian Wilson
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Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare X‐linked dominant condition caused by mutations in PORCN. Porcupine O‐acyltransferase (PORCN) is required for effective Wnt signalling, which is important for normal embryonic development of mesodermal and ectodermal structures. The severity of this multisystem condition is variable, but individuals are primarily affected by abnormalities of the skin, skeleton, eyes and renal tract. Here, we present the case of a female infant born with characteristic but unilateral cutaneous features. At 41 weeks’ gestation, this neonate was born with skin changes affecting the right side of her body. These included truncal erythematous linear lesions in a blaschkoid distribution, dermal atrophy, epidermal naevus‐like papules on the chin and sole of the right foot, and longitudinal ridging and pitting of the nails. At 6 weeks of age she was noted to have mild facial asymmetry. From 3 months of age she started to experience vacant episodes with associated nystagmus. A diagnosis of epilepsy is currently deemed unlikely in the absence of an abnormal electroencephalography or magnetic resonance imaging of the brain. There have been no developmental concerns. Ophthalmology assessment and abdominal ultrasound were also normal. Single nucleotide polymorphism array analysis of DNA extracted from peripheral blood did not identify any mutation. The unilateral features of this case raises the possibility of postzygotic mosaicism. In view of this, a skin biopsy was arranged to undergo further genetic testing, with results pending. The focus of dermatology treatment is frequent application of emollient to affected skin. At 19 months of age this patient requires ongoing multidisciplinary team input from dermatology, paediatrics and clinical genetics. To date, there have only been 10 published cases of unilateral FDH. Ninety per cent of patients with FDH are female with a de novo PORCN mutation. A few cases of mosaic FDH have been reported in males. There is one report of FDH with associated epilepsy, but in the context of cerebellar cortical dysplasia. No structural brain abnormality has been identified in this patient, but seizure disorders should be considered in patients with FDH.
Author(s): Best K, Leech S, Goodhead C, Wilson B
Publication type: Conference Proceedings (inc. Abstract)
Publication status: Published
Conference Name: British Association of Dermatologists 102nd Annual Meeting
Year of Conference: 2022
Pages: 209-209
Online publication date: 01/07/2022
Acceptance date: 02/04/2018
ISSN: 1365-2133
Publisher: Oxford University Press
URL: https://doi.org/10.1111/bjd.21544
DOI: 10.1111/bjd.21544
Series Title: British Journal of Dermatology
