Case Report/Case Series |

Dermatologic Findings in 16 Patients With Cockayne Syndrome and Cerebro-Oculo-Facial-Skeletal Syndrome

Eric Frouin, MD1,2,3,4; Vincent Laugel, MD, PhD4,5; Myriam Durand, MSc5,6; Hélène Dollfus, MD, PhD4,6; Dan Lipsker, MD, PhD3,4
[+] Author Affiliations
1Service d’Anatomie et Cytologie Pathologiques, Centre Hospitalier Universitaire de Montpellier, Montpellier, France
2Service d’Anatomie et Cytologie Pathologiques, Université de Montpellier, Montpellier, France
3Service de Dermatologie, Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
4Faculté de Médecine, Université de Strasbourg, Strasbourg, France
5Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
6Service de Génétique Médicale, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
JAMA Dermatol. 2013;149(12):1414-1418. doi:10.1001/jamadermatol.2013.6683.
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Importance  Cockayne syndrome (CS) and cerebro-oculo-facial-skeletal (COFS) syndrome are autosomal recessive diseases that belong to the family of nucleotide excision repair disorders. Our aim was to describe the cutaneous phenotype of patients with these rare diseases.

Observations  A systematic dermatologic examination of 16 patients included in a European study of CS was performed. The patients were aged 1 to 28 years. Six patients (38%) had mutations in the Cockayne syndrome A (CSA) gene, and the remaining had Cockayne syndrome B (CSB) gene mutations. Fourteen patients were classified clinically as having CS and 2 as having COFS syndrome. Photosensitivity was present in 75% of the patients and was characterized by sunburn after brief sun exposure. Six patients developed symptoms after short sun exposure through a windshield. Six patients had pigmented macules on sun-exposed skin, but none developed a skin neoplasm. Twelve patients (75%) displayed cyanotic acral edema of the extremities. Eight patients had nail dystrophies and 7 had hair anomalies.

Conclusions and Relevance  The dermatologic findings of 16 cases of CS and COFS syndrome highlight the high prevalence of photosensitivity and hair and nail disorders. Cyanotic acral edema was present in 75% of our patients, a finding not previously reported in CS.

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Dermatologic and Hair Findings of 3 Patients With Cockayne Syndrome

A, A 28-year-old woman with pigmented macules on sun-exposed area (left arm). B, Cyanotic edema of the right leg in a 3-year-old child. C, Pseudo “tiger-tail” appearance of 1 hair shaft (polarized microscopic examination; original magnification ×400).

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