Surgical Treatment for Eyelid Deformity in Crouzon Syndrome Associated With Acanthosis Nigricans: Case Report

Friedhofer, Henri; Ocharan, Alan M. W.; Sturtz, Gustavo; Fonseca, André; Coltro, Pedro Soler; Ferreira, Marcus Castro

doi:10.1590/s1807-59322006000200014

Cited by 4 publications

(4 citation statements)

References 6 publications

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“…1 Since then, more than 35 case reports of this genetically distinct disorder known as Crouzon syndrome with acanthosis nigricans (CSAN) have been described. [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] Typical craniofacial and skeletal features of CSAN overlap with classic Crouzon syndrome; all described cases present with craniosynostosis, proptosis, hypertelorism, posteriorly rotated ears, and midface hypoplasia. In addition, patients with CSAN often present with choanal atresia and hydrocephalus, which are absent in classic Crouzon syndrome.…”

Section: A Canthosis Nigricansmentioning

confidence: 99%

Cutaneous Features of Crouzon Syndrome With Acanthosis Nigricans

Mir

Orlow

2013

JAMA Dermatol

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Section: A Canthosis Nigricansmentioning

confidence: 99%

Cutaneous Features of Crouzon Syndrome With Acanthosis Nigricans

Mir

Orlow

2013

JAMA Dermatol

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“…Noncommunicating hydrocephalus is another complication that can result in neurologic impairment or death if not diagnosed and treated at an early stage. Surgical intervention for mandibular hypoplasia leading to oral and dental abnormalities, skin abnormalities and other skeletal abnormalities may require surgical intervention (11,12). The primary treatment of craniofacial abnormalities associated with craniosynostosis is surgical reconstruction.…”

Section: Discussionmentioning

confidence: 99%

A Newborn with Acanthosis Nigricans: Can It Be Crouzon Syndrome with Acanthosis Nigricans?

Sharda

Panigrahi

Gupta³

et al. 2010

Pediatric Dermatology

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Crouzon syndrome is a craniosynostosis syndrome, characterized by cloverleaf skull, hypertelorism, exophthalmos, external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and mandibular prognathism. The 5% of individuals with Crouzon syndrome who have pigmentary changes in the skin are said to have Crouzon syndrome with acanthosis nigricans (CAN). Choanal atresia, hydrocephalus and the cranial features of Crouzon syndrome should suggest the diagnosis of CAN even before acanthosis appears. We present a 10-hour-old newborn who presented with bilateral choanal atresia, craniosynostosis and acanthosis nigricans. Molecular tests identified the FGFR3 Ala391Glu substitution confirming the diagnosis of CAN. Of the 35 cases of CAN reported in literature till date, only one child had acanthosis nigricans at birth. This is the first case from India to have been reported with this mutation.

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“…[1] Criteria for the diagnosis, as suggested by McAdams and colleagues, include three or more of the following clinical features: (1) bilateral auricular chondritis; (2) nasal chondritis; (3) respiratory tract chondritis; (4) nonerosive seronegative inflammatory polyarthritis; (5) ocular inflammation; (6) cochlear and/or vestibular dysfunction; (7) compatible histological features in a cartilage biopsy specimen. [2] We present a case of RP in a young female, which went undiagnosed for eight months and ultimately turned fatal immediately after diagnosis.…”

mentioning

confidence: 98%

“…[2] Crouzon syndrome is due to a mutation of the gene (locus 10 q 26) for FGFR2. Acanthosis nigricans is a feature of several syndromes caused by active mutations of the FGFR3.…”

mentioning

confidence: 99%