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A 5-year-old Hispanic girl is evaluated for a growth on her neck. Her parents state that the lesion has been present since birth and continues to increase in size proportionate to her growth. She has no developmental abnormalities and is of average height and weight. She is bright and articulate. Family history is negative for genodermatoses including tuberous sclerosis. Examination reveals a well-demarcated, slightly raised flesh-colored plaque interspersed with discrete and confluent papules. No other skin lesions were noted.
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Connective tissue nevi are uncommon skin lesions that may result from either excess collagen tissue (collagenoma) or elastic tissue (elastoma).1 Subtypes of elastomas include isolated elastomas, Buschke-Ollendorf syndrome, and elastosis perforans serpiginosa.
Of these, the Buschke-Ollendorf syndrome may be present at birth or arise shortly thereafter. This is a benign autosomal dominant disorder caused by pathogenic mutations in the LEMD3 gene.2 Lesions are firm, yellowish papules that coalesce into plaques. Conditions that are associated Buschke-Ollendorf syndrome include increased bone density in the long bones of the limbs, amblyopia, and tear duct obstruction.3
The shagreen patch is a type of connective tissue nevus that may be an early sign of tuberous sclerosis that arises in early childhood. Tuberous sclerosis is caused by genetic mutations within either the tumor suppressor gene TSC1 or TSC2.4,5 These flesh-to-orangish colored lesions develop a peau d’orange or pigskin consistency and are most commonly found on the back and neck.5
The majority of tuberous sclerosis cases result from spontaneous mutation; about 33% are inherited in autosomal dominant pattern.6 Additional cutaneous findings include hypopigmented macules and, with advancing age, angiofibromas. The condition is often accompanied by seizures, intellectual impairment, and developmental delay.4
Stephen Schleicher, MD, is director of the DermDox Dermatology Centers, associate professor of medicine at Geisinger Commonwealth Medical College, and clinical instructor of dermatology at Arcadia University and Kings College.
References
1. Ngan V. Connective tissue naevus. DermNet. Accessed November 22, 2022. https://dermnetnz.org/topics/connective-tissue-naevi
2. Jain A, Selvam P, Atwal H, Atwal PS. A report of a novel pathogenic variant in a family with Buschke-Ollendorf Syndrome. J Pediatr Genet. 2020;9(1):63-65. doi:10.1055/s-0039-1694767
3. Wu B Buschke-Ollendorff syndrome. DermNet. Accessed November 22, 2022. https://dermnetnz.org/topics/buschke-ollendorff-syndrome
4. Ngan V. Tuberous sclerosis. DermNet. Accessed November 22, 2022. https://dermnetnz.org/topics/tuberous-sclerosis
5. Bongiorno MA, Nathan N, Oyerinde O, et al. Clinical characteristics of connective tissue nevi in tuberous sclerosis complex with special emphasis on shagreen patches. JAMA Dermatol. 2017;153(7):660-665. doi:10.1001/jamadermatol.2017.0298
6. Schwartz RA, Fernández G, Kotulska K, Jóźwiak S. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol. 2007;57(2):189-202. doi:10.1016/j.jaad.2007.05.004
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