Crouzon syndrome with acanthosis nigricans: a case report and literature review
https://doi.org/10.4081/dr.2023.9620
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Crouzon syndrome with acanthosis nigricans is an autosomal dominant disease, with typical features of classic Crouzon craniosynostosis, verrucous hyperplasia, and hyperpigmentation of the skin. While several mutations in FGFR2 cause classic Crouzon syndrome, Crouzon syndrome with acanthosis nigricans results from a point mutation in the fibroblast growth factor receptor 3 gene (FGFR3). We report the case of an 8-year-old Vietnamese girl diagnosed with Crouzon syndrome with acanthosis nigricans, showing typical clinical features, including a crouzonoid face and dark plaques on the skin. Genetic testing showed a missense variation in FGFR3, associated with Crouzon syndrome with acanthosis nigricans. Following diagnosis, we treated acanthosis nigricans with 10% urea cream. This case study and literature review discuss the cutaneous manifestations and dermatological treatments while demonstrating the importance of clinical examination and evaluation of the patient’s medical history during diagnosis. Our findings contribute to the global pool of data, providing practical insights into the manifestations of Crouzon syndrome.
Padmanabhan V, Hegde AM, Rai K. Crouzon's syndrome: A review of literature and case report. Contemp Clin Dent 2011;2:211.
Hlongwa P. Early orthodontic management of Crouzon syndrome: A case report. J Maxillofac Oral Surg 2009;8:74-6.
Popa ML, Popa AC, Tanase C, Gheorghisan-Galateanu AA. Acanthosis nigricans: To be or not to be afraid. Oncol Lett 2019;17:4133-8.
Das A, Datta D, Kassir M, et al. Acanthosis nigricans: A review. J Cosmet Dermatol 2020;19:1857-65.
Curth HO. The necessity of distinguishing four types of acanthosis nigricans. Congressus Internationalis Dermatologiae Munich. 1968;1:557-8.
Kariya H, Nakano H, Ishii N, et al. Crouzon syndrome with acanthosis nigricans and prominent diffuse hyperpigmentation associated with gain‐of‐function A391E mutation in FGFR3 gene. J Dermatol. 2020;47:e451-2.
Nagase T, Nagase M, Hirose S, Ohmori K. Crouzon syndrome with acanthosis nigricans: case report and mutational analysis. Cleft Palate Craniofac J 2000;37:78-82.
Cohen Jr MM. Let's call it" Crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology. Am J Med Genet 1999;84:74.
Herman TE, Sargar K, Siegel MJ. Crouzono-dermo-skeletal syndrome, Crouzon syndrome with acanthosis nigricans syndrome. J Perinatol 2014;34:164-5.
Mir A, Wu T, Orlow SJ. Cutaneous features of Crouzon syndrome with acanthosis nigricans. JAMA Dermatol 2013;149:737-41.
Sharda S, Panigrahi I, Gupta K, et al. A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? Pediatr Dermatol 2010;27:43-7.
Arnaud‐López L, Fragoso R, Mantilla‐Capacho J, Barros‐Núñez P. Crouzon with acanthosis nigricans. Further delineation of the syndrome. Clin Genet 2007;72:405-10.
Nagase T, Nagase M, Hirose S, Ohmori K. Japanese sisters with Pfeiffer syndrome and achondroplasia: a mutation analysis. J Craniofac Surg 1998;9:477-80.
Rymer K, Shiang R, Hsiung A, et al. Expanding the phenotype for the recurrent p. Ala391Glu variant in FGFR3: beyond Crouzon syndrome and acanthosis nigricans. Mol Genet Genomic Med 2019;7:e656.
Lahiri K, Malakar S. Topical tretinoin in acanthosis nigricans. Indian J Dermatol Venereol Leprol 1996;62:159-61.
Treesirichod A, Chaithirayanon S, Chaikul T, Chansakulporn S. The randomized trials of 10% urea cream and 0.025% tretinoin cream in the treatment of acanthosis nigricans. J Dermatol Treat 2021;32:837-42.
De Planque CA, Wall SA, Dalton L, et al. Clinical signs, interventions, and treatment course of three different treatment protocols in patients with Crouzon syndrome with acanthosis nigricans. J Neurosurg Pediatr 2021;28:425-31.
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