Progressive hemifacial atrophy, also known as Parry-Romberg syndrome, is a slowly advancing degenerative disease that mostly affects the cutaneous, subcutaneous fatty tissue, muscle tissue, and bone structures on one side of the face. We describe the chronological progression of this very rare syndrome from early childhood until adulthood in a patient who developed severe atrophy and lost one e...

kindler syndrome (ks) is a rare, autosomal recessive genodermatosis characterized by skin blistering and photosensitivity in infancy, progressive poikiloderma, and diffuse cutaneous atrophy. it affects the skin, mucous membranes, and oral cavity and is caused by mutations in the kind1 gene on 20p12.3. the first case of ks associated with periodontitis was reported in 1996, and have been infrequ...

De-Doncker, Laurent, Florence Picquet, and Maurice Falempin. Effects of cutaneous receptor stimulation on muscular atrophy developed in hindlimb unloading condition. J Appl Physiol 89: 2344–2351, 2000.—The aim of this study was to investigate whether stimulation of the cutaneous mechanoreceptors of the rat foot sole could partially or totally prevent the soleus muscle atrophy developed after 14...

Deposition of phosphorylated SNCA (also known as α-synuclein) in cutaneous nerve fibres has been shown pre- and post-mortem in Parkinson's disease. Thus far, no pre-mortem studies investigating the presence of phosphorylated SNCA in skin sympathetic nerve fibres of multiple system atrophy, another synucleinopathy, have been conducted. In this in vivo study, skin from the ventral forearm of 10 p...

Kindler syndrome (KS) is a rare, autosomal recessive genodermatosis characterized by skin blistering and photosensitivity in infancy, progressive poikiloderma, and diffuse cutaneous atrophy. It affects the skin, mucous membranes, and oral cavity and is caused by mutations in the KIND1 gene on 20p12.3. The first case of KS associated with periodontitis was reported in 1996, and have been infrequ...

As well as other Multikinase Inhibitors (MKI), Imatinib has been related to cutaneous adverse reactions. The majority of these seem to directly depend on its mechanism of action, namely the inhibition of the physiologic function of cutaneous protein kinases, and appear to be dose dependent. Like other traditional chemotherapy agents, MKI cause alopecia, mucositis and xerosis. Cutaneous findings...

Neonatal lupus is a rare disease caused by the transplacental transfer of maternal autoantibodies to the foetus, characterized by transient clinical manifestations such as cutaneous, haematological, and hepatobiliary events or permanent such as congenital heart block. The typical cutaneous manifestations include erythematous, scaly, annular or arched lesions on the face, with slight central atr...