Skin CaL (Café-au-Lait Spots) Multiple

NF-1 Skin

Please click to enlarge.

Note what signs you see.

I (W. Wertelecki, M.D.) see multiple pigmented melanic oval smooth edge spots. Such spots commonly referred in clinical parlance as “café-au-lait” (CaL or coffee with milk like). In the context of other concurrent signs, CaL are one of the most stigmatic signals of neurofibromatosis type 1 (von Recklinghausen, peripheral neurofibromatosis or NF1).

It is important to underscore that the access of the oval CaL tends to be almost horizontal and that the edges are relatively smooth (there are other sorts of melanic skin spots where the edges are irregular or jugged).

PERSPECTIVE: There are numerous other skin signs associated with NF1. This autosomal dominant disorder is among the most frequent in humans (1/25,000), the mutated gene is among the largest (perhaps related to the very large array of associated anomalies and neoplasias), and de-novo mutations are frequent (~50%). We will be posting, on a regular basis, signs that signal the possibility of NF1.

Please see the gallery of signs that collectively signal the presence of NF1.

 

Tags: galNF