PubMed · 6940621
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J E Walker. Crouzon's disease.. https://pubmed.ncbi.nlm.nih.gov/6940621/
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Osteoma cutis, also called cutaneous ossification, refers to the rare occurrence of bone in the skin. It may be primary, occurring in normal skin, or secondary, occurring in disrupted skin tissue. A 42-year-old white woman presented with long-standing progressive primary osteoma cutis involving her head and neck, trunk and extremities. She had craniofacial dysmorphism with mid-face hypoplasia, including saddle nose deformity, mild to moderate generalized joint hypermobility, extensive paravertebral ossification, and disc space calcification. The differential diagnosis for this entity is presented. This phenotype may be a previously undescribed syndrome.
Crouzon syndrome is an autosomal dominant disorder resulting in facial dysmorphism and craniosynostosis involving multiple cranial sutures. A common but often unrecognized early complication associated with craniosynostosis is a finding of increased intracranial pressure (ICP). This increase in ICP can lead to optic atrophy, neuronal damage, and mental deficits. The case of a 21-month-old girl with Crouzon syndrome is described. Although the child was clinically asymptomatic, a routine ophthalmic exam revealed papilledema and subsequently increased intracranial pressure and craniosynostosis were found. Cranial expansion and bicanthal advancement were performed to relieve the increased pressure. In cases such as these, long-term follow-up is essential because of the progressive nature of the disorder as well as the possibility of a recurrence of elevated intracranial pressure and a need for secondary decompressive surgery.
Craniofacial asymmetry is caused by various aetiologies but clinical examination remains the most important criteria since minor asymmetry is always present. The diagnosis can be confirmed by anthropometric measurements and radiological examinations but only severe asymmetries or asymmetries with an associated functional impairment should be treated. The treatment depends on the cause, and on the time of appearance. Congenital asymmetries might be treated early, during the first year of life if a craniosynostosis is present. Hemifacial microsomia are treated later if there is no breathing impairment. Since the pediatricians have recommended the dorsal position for infant sleeping, an increasing number of posterior flattening of the skull has been appearing, and could be prevented by adequate nursing. Other causes of craniofacial asymmetries are rare and should be adapted to the cause (tumors, atrophies, neurological paralysis, hypertrophies) by a specialized multidisciplinar team.