Pigmented Patch and Congenital Deafness

Abstract: 47 yo woman with an unusual pigmented lesion
Presented by: Mubina Nasrin and David Elpern
History: This 47 year old woman has had a slowly progressive pigmented patch on the posterior left shoulder since childhood. It has gotten darker over many years. In addition she has congenital sensoryneural hearing loss (as does a brother). His skin is reportedly normal.
O/E: There is a solitary large, somewhat "s" shaped lesion measuring 15 x 5-6 cms over the inferior aspect of the Left shoulder and upper back. The patch has speckled pigmented macules, well defined margins and a smooth surface.
Clinical Photo(s)

Lab: N/A
Histopathology: None done
Diagnosis or DDx: ? Speckled Lentiginous Nevus
Questions: Is this patient's deafness related to the pigmented lesion? Does she have the "speckled lentiginous nevus syndrome." DEafness has not been reported with this disorder in the past.
Reason(s) Presented: For discussion and ideas.
References: Rudolf Happle. Speckled lentiginous nevus syndrome: Delineation of a new distinct neurocutaneous phenotype
European Journal of Dermatology. Volume 12, Number 2, 133-5, March - April 2002
Summary : Speckled lentiginous nevus syndrome, a so far unrecognized cutaneous phenotype associated with neurological anomalies, is postulated on the basis of the following arguments. Phacomatosis pigmentokeratotica represents a twin spot phenomenon. One isolated half of this complex phenotype is observed rather often in the form of Schimmelpenning syndrome, whereas the other half of this twin nevus syndrome consists of a speckled lentiginous nevus associated with various neurological abnormalities incompatible with Schimmelpenning syndrome, such as hyperhidrosis, muscular weakness and dysesthesia. This second component of phacomatosis pigmentokeratotica may likewise occur separately. For the association of speckled lentiginous nevus with hyperhidrosis, muscular weakness, dysesthesia or other neurological abnormalities, the term "speckled lentiginous nevus syndrome" is proposed. Some case reports that may be categorized as examples of this new syndrome are reviewed. The postulated new phenotype is tentatively categorized as a paradominant trait. Future clinical studies will probably confirm the existence of speckled lentiginous nevus syndrome as a distinct neurocutaneous phenotype.