[Cutaneous signs of occult cranial and spinal dysraphism]. / Signes cutanés des dysraphies occultes cranioencéphaliques et spinales.

Dysraphism refers to neural tube closure abnormalities and midline closure abnormalities of the skin, paravertebral muscles, vertebrae and meninges. Cranial dysraphism (CD) and occult spinal dysraphism (OSD) may be discovered via evocative skin signs present at birth or appearing later in childhood or even in adulthood. This review describes the various types of skin signs associated with CD and OSD. All congenital midline skin lesions, particularly on the frontonasal area, the vertex or the occipitocervical and low back regions, should prompt suspicion of underlying dysraphism. The main evocative midline skin abnormalities are: (i) for underlying DCEO: a nodule, swelling, skin openings and hair collar sign or hair tuft; (ii) for underlying DSO, localized hypertrichosis, an atypical or complex lower back dimple, a dermoid fistula, infantile haemangioma, caudal appendage and lipoma. In the event of suspected DCEO or DSO, spinal or medullary MRI constitutes the reference examination.

The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature.

BACKGROUND: Hair collar sign (HCS) and hair tuft of the scalp (HTS) are cutaneous signs of an underlying neuroectodermal defect, but most available data are based on case reports. OBJECTIVE: We sought to define the clinical spectrum of HCS and HTS, clarify the risk for underlying neurovascular anomalies, and provide imaging recommendations. METHODS: A 10-year multicenter retrospective and prospective analysis of clinical, radiologic, and histopathologic features of HCS and HTS in pediatric patients was performed. RESULTS: Of the 78 patients included in the study, 56 underwent cranial and brain imaging. Twenty-three of the 56 patients (41%) had abnormal findings, including the following: (1) cranial/bone defect (30.4%), with direct communication with the central nervous system in 28.6%; (2) venous malformations (25%); or (3) central nervous system abnormalities (12.5%). Meningeal heterotopia in 34.6% (9/26) was the most common neuroectodermal association. Sinus pericranii, paraganglioma, and combined nevus were also identified. LIMITATIONS: The partial retrospective design and predominant recruitment from the dermatology department are limitations of this study. CONCLUSIONS: Infants with HCS or HTS are at high risk for underlying neurovascular anomalies. Magnetic resonance imaging scans should be performed in order to refer the infant to the appropriate specialist for management.

Tiny hair tuft: a clue for occipital cephalocele.

Recurrent meningitis is a rare problem and can be due to alterations in immune system, or craniospinal defect. Any clue either in patient's history or physical examination would be helpful for avoiding unnecessary and tiring tests. Here we present the case of a child with recurrent bacterial meningitis who had an unnoticed hair tuft on the occipital region. The final diagnosis was occipital cephalocele with a rare presentation of a tiny tuft of hair.