The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a v...

522 Ann Dermatol Received November 15, 2012, Revised January 25, 2013, Accepted for publication January 28, 2013 Corresponding author: Hans Jürgen Hoffmann, Allergy Center for West Denmark, Department of Pulmonary Medicine, Health: Aarhus University, Building 2b, Nørrebrogade 44, DK 8000 Aarhus C, Denmark. Tel: 45-78462107, Fax: 45-78462110, E-mail: hans.jurgen.hoffmann @ki.au.dk This is an Ope...

Nearly 68% of patients with cutis marmorata have a congenital abnormality, the most common being body asymmetry. Cutis marmorata has also been shown to be associated with the chiari malformations, macrocephaly, hemimegalencephaly, bilateral cortical dysplasia, calvarial haemangioma and cavum septi pellucidum cysts.2 In fact, this subset of patients may have developmental delay and are now class...

BACKGROUND Cutaneous amyloidosis has been classified into primary cutaneous amyloidosis (PCA, OMIM #105250), secondary cutaneous amyloidosis and systemic cutaneous amyloidosis. PCA is the deposition of amyloid in previously apparent normal skin without systemic involvement. Amyloidosis cutis dyschromica (ACD) is a rare distinct type of PCA. Here, the unique clinical and histological findings of...

ABS: antibiotics DDS: diamino-diphenyl sulphone FUMHD: Febrile ulceronecrotic MuchaHabermann disease IVIG: intravenous immunoglobulins MI: mucosal involvement MTX: methotrexate PLEVA: pityriasis lichenoides et varioliformis acuta SI: systemic involvement SS: systemic steroids INTRODUCTION Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare, potentially fatal, severe variant of pity...