Cutaneous Findings in Craniofacial Malformation Syndromes

Orlow, Seth J.

doi:10.1001/archderm.1992.01680200089014

Cited by 25 publications

(5 citation statements)

References 57 publications

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“…Acanthosis nigricans (AN) is a dermatological disorder consisting of hyperpigmented, hyperkeratotic le-sions usually found in the skin flexures and the neck [Curth, 1968[Curth, , 1971Brown and Winkelmann, 1968;Ebling et al, 1986;Rendon et al, 1989;Orlow, 1992;Sybert, 1997]. Histological examination of affected areas shows hyperkeratosis and papillomatosis without hypermelanosis.…”

Section: Introductionmentioning

confidence: 99%

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3

et al. 2001

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A unique type of craniofacial dysostosis, Crouzon syndrome with acanthosis nigricans (CAN), has been attributed to a specific substitution (Ala391Glu) in the fibroblast growth factor receptor 3 (FGFR3) gene. At birth, individuals with this disorder have craniosynostosis, ocular proptosis, midface hypoplasia, choanal atresia, hydrocephalus, and they experience the onset of acanthosis nigricans during childhood. We report three cases and compare the clinical characteristics of our cases with the previously reported cases of this disorder. Since the Ala391Glu substitution in FGFR3 is close to the substitutions in the transmembrane domain that result in achondroplasia, we carefully reviewed the skeletal findings in six patients. We identified subtle radiographic findings of achondroplasia in all six cases including narrow sacrosciatic notches, short vertebral bodies, lack of the normal increase in interpediculate distance from the upper lumbar vertebrae caudally, and broad, short metacarpals and phalanges. Even before acanthosis nigricans appears, the presence of choanal atresia and hydrocephalus in an individual with features of Crouzon syndrome should suggest the diagnosis of CAN, and subtle skeletal findings can lend further support to this diagnosis.

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Section: Introductionmentioning

confidence: 99%

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3

et al. 2001

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“…This entity is characterized by scalp alopecia, most often in the parietaloccipital regions symmetrically, a tower-like appearance of the cranial vault due to brachycephaly, motor development delay, mental retardation, trigeminal facial analgesia, cerebellar hypoplasia, ataxic gait, short stature and hypoplasia of the labia majora. The two Mexican girls had normal chromosomes [Gómez, 1979[Gómez, , 1987López-Herná ndez, 1982;and Orlow, 1992]. The three patients we report had an area of alopecia on the scalp at birth and as they grew older the other signs of the syndrome became more evident (Table I, Figs.…”

Section: Discussionmentioning

confidence: 69%

“…Orlow [1992] noted that the areas of alopecia found in this syndrome have no hair follicles and suggests that this might be the result of healed areas of aplasia cutis congenita. The skin biopsy performed on patients 1 and 3 showed the existence of underdeveloped pilisebaceous structures and some preserved hair shafts (Fig.…”

Section: Discussionmentioning

confidence: 88%

Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): Description of three new cases and review

1997

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Cerebello-trigemino-dermal "dysplasia" is a rare neurocutaneous syndrome of craniosynostosis, ataxia, trigeminal anesthesia, scalp alopecia, cerebellar anomaly, midface hypoplasia, corneal opacities, apparently low-set ears, mental retardation, and short stature. It seems to be a sporadic condition but little is known about its cause and pathogenesis in the few cases reported so far. We present three new unrelated patients and magnetic resonance images of the central nervous system, and review the four cases reported previously. We think that this is not such a rare condition, and that it is underdiagnosed.

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“…Another form of craniosynostosis that may arise in patients with acanthosis nigricans of wide distribution is the Beare-Stevenson syndrome (12).…”

Section: Discussionmentioning

confidence: 99%

Crouzon Disease with Acanthosis Nigricans and Melanocytic Nevi

Gines

Rodriguez-Piehardo

Jorquera

et al. 1996

Pediatric Dermatology

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A number of craniofacial malformation syndromes are characterized by prominent abnormalities of the skin, hair, nails, and mucous membranes. Crouzon disease has been reported in association with severe acanthosis nigricans in 12 patients. We report a new case of this association in a 16-year-old woman with multiple melanocytic nevi. Melanocytic nevi have been already reported in the medical literature in association with several congenital syndromes, although, to our knowledge, not with Crouzon disease.

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Cutaneous Findings in Craniofacial Malformation Syndromes

Abstract: More accurate descriptions of many craniofacial malformation syndromes are needed by dermatologists. Alerting the dermatologic community to their existence should stimulate attempts at therapeutic intervention on behalf of affected persons.

Cited by 25 publications

References 57 publications

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3

Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3

Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): Description of three new cases and review

Crouzon Disease with Acanthosis Nigricans and Melanocytic Nevi

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