R. Happle

Cancer Proneness of Linear Porokeratosis May Be Explained by Allelic Loss

BACKGROUND It is well known that porokeratosis, a genetically heterogeneous disorder characterized by the histopathological feature of the cornoid lamella, shows an increased proneness to develop carcinoma. On the other hand, a significant mechanism in the origin of many forms of cancer is loss of heterozygosity or allelic loss. OBJECTIVE Because it has recently been proposed that linear porokeratosis may result from allelic loss, one might expect that linear porokeratosis is especially prone to malignant degeneration. In order to test this hypothesis, a review of case reports was performed. METHOD Cases of cancer-associated porokeratosis were collected from the European language literature and assigned to one of 5 different types [plaque type of Mibelli (PM); disseminated actinic superficial porokeratosis (DSAP); porokeratosis palmaris, plantaris et disseminata (PPPD); porokeratosis punctata palmaris et plantaris (PPPP); linear porokeratosis (LP)]. RESULTS Malignant or premalignant lesions were reported in 9 cases of PM, 15 cases of DSAP, 3 cases of PPPD, 1 case of PPPP and 21 cases of LP. CONCLUSION This analysis supports the view that among the various forms of porokeratosis, the linear type is particularly susceptible to malignant degeneration. Arguments are presented in favor of the assumption that the genetic mechanism of allelic loss giving rise to LP may represent an initial step in the development of cancer.

Nevus psiloliparus: A Distinct Fatty Tissue Nevus

Background: Encephalocraniocutaneous lipomatosis is usually associated with a peculiar type of fatty tissue nevus which represents a smoothly surfaced and hairless lesion involving the scalp. This disorder has so far not been recognized as a cutaneous entity. Objective: The purpose of this article is to describe the characteristic features of this nevus and to give it a name. Method: From the study of two cases and from a review of the literature we delineate the clinical and histopathological criteria of this disorder for which we propose the term ‘nevus psiloliparus’. This name is derived from the Greek words psilós = hairless and liparós = fatty, and describes the two most characteristic features of the disorder. Results: A comprehensive comparison shows that nevus psiloliparus can be distinguished from other types of fatty tissue nevi by clinical criteria such as localization on the scalp, a flat smooth surface and absence of hair follicles, by the histopathological feature of isolated arrector pili muscles and by the presence of associated extracutaneous features in the form of encephalocraniocutaneous lipomatosis. In particular, nevus psiloliparus can be separated from the Hoffmann-Zurhelle nevus that has so far never been observed in cases of encephalocraniocutaneous lipomatosis. Conclusion: The presently available data suggest that nevus psiloliparus represents a distinct cutaneous entity. Future clinical and genetic research should show whether this concept holds true.

Schimmelpenning-Feuerstein-Mims Syndrome with Hypophosphatemic Rickets

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.

Immunological treatment of alopecia areata including the use of diphencyprone

Immunomodulation is a characteristic shared by all modes of treatment which have a beneficial effect on hair regrowth in alopecia areata (AA). In AA with moderate hair loss, the chances of spontaneous remission are favourable and an expectative policy is indicated. Only in severe cases of AA is treatment justified. Topical immunotherapy with diphencyprone (or alternatively squaric acid dibutylester) is the treatment of choice, combining the highest rate of effectiveness with acceptable adverse effects. Despite considerable drawbacks, PUVA therapy can be considered as an alternative. Systemic administration of corticosteroids or cyclosporin A produces unacceptable side-effects and their topical application is ineffective. Intradermal injections of corticosteroids, however, can be very successful in AA of the eyebrows. me therapeutic effect of inosiplex and dapsone lacks confirmation in appropriately controlled studies.

Palmar Papillomatous Lesions Reminiscent of Epidermal Nevus in a Case of Focal Dermal Hypoplasia: A Nosological Consideration

A 40-year-old woman with focal dermal hypoplasia had a palmar papillomatous lesion showing a linear arrangement and histopathological features compatible with a diagnosis of epidermal nevus. This unusual manifestation of focal dermal hypoplasia is difficult to categorize. Undoubtedly the lesion reflects functional X-chromosome mosaicism. Although the mechanism of lyonization may give rise to true epidermal nevi such as CHILD nevus, we prefer to classify the present skin lesion as a nevoid disorder and not as an epidermal nevus.