Scalp nodules as a presenting sign of fibrodysplasia ossificans progressiva: a register-based study.
BACKGROUND
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by progressive ossification of soft tissues. Clinical diagnosis is important because trauma from lesional biopsies can exacerbate the disease.


OBJECTIVE
We sought to evaluate the frequency of scalp nodules as the presenting manifestation of FOP.


METHODS
We describe 3 infants with FOP who presented with multiple neonatal scalp nodules. We reviewed all 43 cases of this disorder in the French FOP registry.


RESULTS
Scalp nodules were found in 40% of cases and usually represented the first manifestation of the disease. All 43 patients had characteristic skeletal malformations involving the great toes (n = 43), fingers (n = 12), and vertebrae (n = 3). Other abnormalities were cerebral malformations (n = 1) and alopecia (n = 2). Histopathologic analysis did not contribute to the differential diagnosis and was interpreted as cranial fasciitis in two patients.


CONCLUSIONS
Our study was retrospective, and the presence or absence of scalp nodules was not always recorded.


CONCLUSIONS
Neonatal scalp nodules associated with a characteristic malformation of the great toes are a common presentation of FOP. Physicians should be aware that lesional biopsies can exacerbate the disease and must therefore be avoided. A diagnosis of classic FOP can be confirmed by molecular genetic studies.
Department of Dermatology, Groupe Hospitalier Necker Enfants-Malades, Paris, France.
Maryam
M
Piram
Martine
M
Le Merrer
Valérie
V
Bughin
Yves
Y
De Prost
Sylvie
S
Fraitag
Christine
C
Bodemer
D000367:Age Factors; D001707:Biopsy, Needle; D002648:Child; D002675:Child, Preschool; D042241:Early Diagnosis; D005260:Female; D005602:France; D005820:Genetic Testing / Q000379:methods; D006214:Hallux / Q000002:abnormalities; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009221:Myositis Ossificans / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D011237:Predictive Value of Tests; D012042:Registries; D012189:Retrospective Studies; D018570:Risk Assessment; D012535:Scalp / Q000473:pathology*; D012680:Sensitivity and Specificity