Schimmelpenning-Feuerstein-Mims Syndrome with Hypophosphatemic Rickets

Abstract

The Schimmelpenning-Feuerstein-Mims syndrome (SFM syndrome) is a rare and variable multisystem defect consisting of congenital, extensive linear nevus sebaceus and associated abnormalities in different neuroectodermal organ systems. We present the history of a 52-year-old female patient with disproportionate hyposomia and asymmetric constitution. From birth she suffered from a right-sided, extensive nevus sebaceus following Blaschko’s lines extending on the scalp, neck, right arm and trunk. At the age of 5 years, she developed a generalized growth retardation, along with deformations of bones. At the age of 11, hypophosphatemic rickets was diagnosed causing this growth retardation. Moreover, the patient developed a precocious puberty at the age of 9 years. When we saw the patient 40 years after the diagnosis had been made, phosphaturia had returned to normal. Specific therapy of hypophosphatemic rickets is straightforward and efficient in preventing late complications like growth retardation. We suggest to conduct appropriate laboratory tests in early childhood in patients with an extensive systematized sebaceous nevus or with additional signs of growth retardation or skeletal involvement, in order to exclude hypophosphatemic rickets associated with SFM syndrome.

Hypophosphatemic Rickets, Epidermal Nevus Syndrome With Skeletal Changes: A Case Report.

“…Growth retardation that developed at age of 6 years in the Pakistani patient revealed a similar finding in a reported case of a patient with ENS associated skeletal deformities, hypophosphatemic rickets and multiple fractures (Report 2003). Ipsilateral hemi-atrophy, found in this case, was consistent with cases published in the literature, which was the most consistent extra-cutaneous anomaly in patients who had Phacomatosis pigmentokeratotica, which was one of the ENS in case series study conducted in 1998 (Tadini et al 1998).…”

“…The diagnosis of SFM syndrome comprises of a congenital, unilateral nevus sebaceous that follows Blaschko's lines, which might be associated with cerebral, ocular, cardiovascular, urogenital, or skeletal abnormalities. Schimmelpenning first described the condition in 1957 (Report 2003). …”

Linear nevus sebaceous syndrome with hypophosphatemic rickets with elevated FGF-23

“…Endocrinological complications in LNSS have rarely been reported; however, LNSS patients have been reported to be associated with either precocious puberty [2] or vitamin D-resistant hypophosphatemic rickets [3,4]. In two LNSS cases with hypophosphatemia [5,6], high levels of serum fibroblast growth factor-23 (FGF-23), immunoglobulin E (IgE), and parathormone (PTH) were reported.…”

Speckled Lentiginous Nevus Syndrome: Report of a Further Case

“…Speckled lentiginous nevus syndrome should be distinguished from phacomatosis pigmentokeratotica that represents a combination of Schimmelpenning syndrome [7]and speckled lentiginous nevus syndrome [2], and from LEOPARD syndrome that is characterized by diffuse lentiginosis without melanocytic papules [8]. Phacomatosis pigmentovascularis may be associated with a speckled lentiginous nevus [9], but this particular type of nevus is quite flat and does never show melanocytic papules.…”