Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).

BACKGROUND: There is confusion in the literature concerning disorders caused by EBP (emopamil-binding protein) mutations in males. OBJECTIVES: To study the clinical and genetic differences in males affected either with Conradi-Hünermann-Happle (CHH) syndrome (X-linked dominant chondrodysplasia punctata, CDPX2) or with a nonmosaic, X-linked recessive disorder for which we propose the acronymic term MEND syndrome (male EBP disorder with neurological defects). METHODS: We report a 7-year-old boy with a history of transient scaly erythematous lesions on his limbs, trunk and scalp soon after birth. DNA was isolated from ethylenediamine tetraacetic acid-blood samples of the patient and the four coding exons of the EBP gene were amplified by polymerase chain reaction. We review all published cases of CHH syndrome in males in the literature and elaborate the clinical and genetic differences between CHH syndrome in males and MEND syndrome. RESULTS: We found at position 33 of the EBP gene the variant c.33C>A leading to the same nonsense mutation p.Y11X that had previously occurred de novo in a female with typical manifestations of CHH syndrome. When the known male cases with EBP mutations were reviewed, a striking nosological difference between the mosaic and nonmosaic phenotypes was evident. Clear-cut clinical criteria are elaborated to distinguish between CHH syndrome in males and MEND syndrome. CONCLUSIONS: Because the clinical outcome and prognosis are different it is important to distinguish between males with CHH syndrome that represents a mosaic phenotype, and those with MEND syndrome that is a nonmosaic trait.

Acromelanosis albo-punctata: a distinct inherited dermatosis with acral spotty dyspigmentation without systemic involvement.

We describe an otherwise healthy 7-year-old boy who developed confetti-like hypopigmented macules on the dorsal aspects of the hands and feet, spreading to the palms and soles a few months after birth. In 1964 Siemens introduced the term acromelanosis albo-punctata to describe the skin features of a patient who has remained the only reported case in the literature so far and who strongly resembles our patient. By genetic testing we excluded mutations in genes known to be involved in diseases with acral hypo- or hyperpigmentation. We review the differential diagnosis of acral localized spotty dyspigmentation and conclude that acromelanosis albo-punctata may represent a distinct entity.

Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.

A new syndrome with poikiloderma was described by Clericuzio et al. in 1991.(1) They reported 14 Navajo native Americans, including eight siblings, developing in the first year of life an erythematous rash, which started on the limbs and spread over the trunk and the face. This rash evolved into poikiloderma. All patients had recurrent bacterial infections. First published as Navajo poikiloderma this syndrome is now known as poikiloderma with neutropenia (PN, OMIM 604173). The inheritance is autosomal recessive, and mutations in a new gene, C16orf57, were recently described in two kindreds.(2) Because of the phenotypic overlap between Rothmund-Thomson syndrome (RTS) and PN, a few patients have been reclassified as mutations in the RECQL4 gene for RTS were absent.(2-5) Until now 27 patients have been described with clinical PN.(1-3,5-8) Here, we report the sixth family with PN outside the Navajo population. We found the previously unreported mutation c.243G>A, p.W81X in the C16orf57 gene, thus confirming the relation of this gene to the disease.(2,6) Because the molecular genetic diagnosis is not always available, we propose clinical and laboratory diagnostic criteria for PN.

Updated Swiss guidelines for the treatment and follow-up of cutaneous melanoma.

Melanoma is the most common lethal cutaneous neoplasm. In order to harmonise treatment and follow-up of melanoma patients, guidelines for the management of melanoma in Switzerland were inaugurated in 2001 and revised in 2006. A new classification and recent results in randomised trials necessitated changes concerning staging and modifications of the recommendations of therapy and follow-up.

Recurrent flexural exanthema (SDRIFE or baboon syndrome) after administration of two different iodinated radio contrast media.

In 1984, the baboon syndrome was described as a particular form of systemic contact dermatitis that occurred after the administration of a contact allergen in individuals previously sensitized by topical exposure to the same allergen. Its clinical picture presents as an erythema of the buttocks and upper inner thighs resembling the red bottom of baboons. This specific reaction was originally observed with mercury, nickel and ampicillin. Since then over 100 cases have been described, most of them without known prior sensitization to the causative agent. In 2004, our group proposed the acronym SDRIFE specifically for cases associated with systemic drugs; it stands for symmetrical drug-related intertriginous and flexural exanthema, as a distinct reaction pattern related to systemic drugs. Here we describe a case of SDRIFE after administration of the iodinated radio contrast medium (RCM) iomeprol (Iomeron), accidentally reproduced by the RCM iopromide (Ultravist). Positive delayed skin tests with both drugs were observed indicating that the pathomechanism of SDRIFE is likely a cell-mediated type IV allergy. Oral potassium iodide and a skin-test-negative RCM were administered and both tolerated, indicating that the antigen is related to the molecules and not to iodine itself. Therefore, in our case skin tests had a good positive and negative predictive value.

Circumscribed juvenile pityriasis rubra pilaris.

We report the case of a 20-year-old woman with a 10-year history of circumscribed juvenile-onset pityriasis rubra pilaris (PRP, type IV). Our patient had well-defined keratotic follicular papules on an erythematous base located on the extensor aspects of the extremities and dorsal aspects of the feet but no involvement of the palms and soles. Although most cases of type IV PRP follow a favourable course with spontaneous resolution of the lesions, this case demonstrates that circumscribed juvenile PRP can be more persistent and lasts several years.