International journal of dermatology
-
Case Reports
Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene.
Lymphedema-distichiasis syndrome (LD, OMIM 153400) is an autosomal dominant disorder with variable expression. It is caused by mutations in the FOXC2-gene, which codes for a forkhead transcription factor involved in the development of the lymphatic and vascular system. ⋯ Other associations have been reported, including congenital heart disease, ptosis, cleft lip/palate and spinal extradural cysts. Here we describe a family with classical lymphedema-distichiasis syndrome caused by a duplication in the FOXC2-gene.
-
The frequency and types of nail changes in pemphigus vulgaris (PV) are unclear. Aim To determine the frequency and types of nail changes, and their correlation with the number of skin and periungual bullae. ⋯ Nail changes in PV are common and related to the number of skin bullae and the presence of periungual bullae.
-
Case Reports
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view.
Cowden disease is a rare autosomal dominant disorder characterized by multiple hamartomas and (malignant) tumors affecting major organs including the breast, thyroid, endometrium, brain, skin and mucosa. Diagnostic criteria as formulated by the International Cowden Consortium serve as a guideline to clinically identify patients in which Cowden disease is suspected. However, the spectrum of abnormalities associated with PTEN mutations is very broad, such that the term PTEN hamartoma tumor syndrome (PTHS) is often used. ⋯ The third patient does not meet the criteria for Cowden disease; however, genetic analysis showed a pathogenic mutation in the PTEN gene. Dermatologists regularly encounter the (muco-)cutaneous abnormalities that can be seen in PTEN hamartoma tumor syndrome. These findings combined with a (family) history of internal malignancy or a macrocephaly should raise the suspicion of PTHS, even in the absence of classical Cowden criteria.