Aplasia cutis congenita de cuero cabelludo. Estudio clínico de 35 pacientes y su relación con los defectos de la línea media.

Zusammenfassung

Introduction: The hypothesis of intermittent pattern of neural tube closure could justify the association of congenital aplasia cutis of the scalp (CACS) with lumbo-sacral rachischisis without cutaneous defects over the rachischisis. To our knowledge, this association has never been reported so far. Objetives: 1.- Study of 35 patients with CACS from Hospital Clínico Universitario in Valencia, Spain, between September 1993 and December 2004. 2.- Statistical analysis of the associations among the different features of the patients. 3.- Verify if CACS is a cutaneous marker of neural tube closure defects and/or other congenital defects, specially of the middle line, underlying the cutaneous defect or distant to it. 4.- New diagnostic protocol. 5.- Dermoscopy. 6.- New classification for CACS. Conclusions: The presence of hair collars in CACS is related to rachischisis or craniorachischisis. This hair collar is a marker for distant occult rachischisis. Hypertrophic CACS is more frequently associated to distant rachischisis than atrophic or membranous CACS. Bigger lesions tend to be more hereditary. Membranous CACS is the least hereditary type and atrophic CACS is the most. When CACS is not located on the vertex the risk of underlying lesions is increased. Membranous CACS is generally located on the vertex. The smallest lesions associate more frequently underlying defects. Frieden type 1 associates the smallest lesions. There is statistically significative relationship between the clinical type of CACS and the area of the lesion (atrophic CACS are bigger). The presence of hair collar is more frequent when there are alterations in the middle line. Frieden group 1 associates less often underlying defects compared to groups 2 and 3. Membranous CACS does not associate underlying defects. Atrophic CACS is the type more often associated to other congenital malformations out of the middle line. Membranous and hypertrophic types constitute Frieden group 1. We can not confirm that the presence of CACS by itself is a marker of rachischisis or if it needs to be associated with other middle line defects. There is a higher probability of rachischisis in patients with CACS than in the rest of the general population. And besides this is a distant rachischisis with no cutaneous defects over the rachischisis in most of the patients. The diagnostic protocol should include tests in order to detect possible distal occult rachischisis or other distant occult middle line defects. Dermoscopy can be useful for the diagnosis of CACS and other congenital defects associating hair collar sign. The new proposal for classification of CACS with three clinical subtypes (Membranous, atrophic and hypertrophic), makes easier the study of patients with CACS and improves some aspects of Friedens classification.