Case history A 14-year-old female was referred to the cutaneous allergy clinic for patch
testing. She had a 3-year history of an eczematous rash which was worse in cold weather …

Myhre syndrome is a rare disorder characterised by short stature, skeletal anomalies, facial
dysmorphism and hearing loss (HL), resulting from heterozygous mutations of the SMAD4 …

Abstract Myhre syndrome (MS)(MIM 139210) is a rare disorder characterized by short
stature, mental retardation, muscular build, blepharophimosis, and decreased joint mobility …

Juvenile dermatomyositis (JDM) is one of the pediatric systemic connective tissue disorders,
consisting of an idiopathic inflammatory myopathy, affecting primarily skin and muscle …

Apart from the Marfan syndrome and the Loeys-Dietz syndromes, aneurysms may occur with
mutations of the SMAD3 and are associated with early osteoarthritis (OA) 1. We describe a …

SIR, JDM is a heterogeneous autoimmune-mediated disease, which may overlap with other
connective tissue disorders, including SSc, SLE and MCTD [1, 2]. However, there is no …

Systemic scleroderma in children is very rare and is considered similar to adult-onset
disease. In adults, new etiopathogenetic and therapeutic approaches have emerged in …

Scleroderma in children virtually always manifests in the form of localized disease, whereas
adult scleroderma usually manifests as systemic disease. The recent literature on childhood …

Background Juvenile dermatomyositis (jDM) is the most common idiopathic inflammatory
myopathy of childhood. Amyopathic or hypomyopathic courses have been described. Case …

Background: Juvenile scleroderma is a rarely seen chronic connective tissue disorder
characterized by stiffening of the skin. The frequency of the disease was reported as one per …