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This section publishes translational and clinical research on a broad range of rare diseases (primarily genetic but also autoimmune, inflammatory, and infectious), characterized by the predominant involvement of skin and adnexa. Topics of interest range from research on disease aetiology, pathogenetic mechanisms, and disease modifiers, to studies on epidemiologic and diagnostic aspects of single disorders or disease groups, analyses of natural disease course, and descriptions of novel clinical features. A major focus is on all aspects of patient care, and particularly on recommendations for patient management. Review articles on specific diseases or disease groups are welcome.
Research
A localized form of epidermolysis bullosa simplex (EBS-l) is considered one of the mildest forms of epidermolysis bullosa (EB), with blisters limited to the palms and soles. However, these lesions can be very ...
Orphanet Journal of Rare Diseases 2017 12:119
Published on: 28 June 2017
Review
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that ...
Orphanet Journal of Rare Diseases 2017 12:85
Published on: 10 May 2017
Research
With a potentially early onset, hereditary angioedema (HAE) requires special knowledge also in infancy and early childhood. In children from families with HAE, the diagnosis should be confirmed or refuted earl...
Orphanet Journal of Rare Diseases 2017 12:55
Published on: 16 March 2017
Review
Yellow nail syndrome (YNS; OMIM 153300, ORPHA662) is a very rare disorder that almost always occurs after 50 years of age but a juvenile or familial form has also been observed. YNS is diagnosed based on a tri...
Orphanet Journal of Rare Diseases 2017 12:42
Published on: 27 February 2017
Research
Stevens Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare but fatal adverse skin reactions that affect all age groups. In order to better understand literature on this topic, we conducted a ...
Orphanet Journal of Rare Diseases 2017 12:14
Published on: 18 January 2017
Letter to the Editor
Symmetrical acrokeratoderma is a recently described dermatosis in young adult males of Chinese descent. In this report, we describe a series of five cases of symmetrical acrokeratoderma from India. All 5 patie...
Orphanet Journal of Rare Diseases 2016 11:156
Published on: 22 November 2016
Letter to the Editor
The internet, and social media platforms, are increasingly being used by substantial sectors of the worldwide population. By engaging effectively with online and social media, scientists and clinicians can obt...
Orphanet Journal of Rare Diseases 2016 11:151
Published on: 9 November 2016
Research
Integrin α3 (ITGA3) gene mutations are associated with Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa (ILNEB syndrome). To date only six patients are reported: all carried homozygous ITGA...
Orphanet Journal of Rare Diseases 2016 11:136
Published on: 7 October 2016
Research
Aberrant activation of the Hedgehog (Hh) pathway is a key driver in the pathogenesis of basal cell carcinomas (BCCs), including patients with BCC nevus syndrome (BCCNS). It is unclear whether BCCs arising in p...
Orphanet Journal of Rare Diseases 2016 11:120
Published on: 1 September 2016
Review
Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by exacerbated skin and/or mucosal fragility and blister formation after minor mechanical trauma. Leve...
Orphanet Journal of Rare Diseases 2016 11:117
Published on: 20 August 2016
Research
Calciphylaxis is a syndrome consisting of vascular calcification, thrombosis, and skin necrosis. The syndrome develops often in chronic hemodialysis patients. However, there have been several case reports on c...
Orphanet Journal of Rare Diseases 2016 11:35
Published on: 12 April 2016
Letter to the Editor
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis with severe blistering. No curative treatment is available. Scientific data indicated that epigallocatechin-3-gallate (EGCG), a green ...
Orphanet Journal of Rare Diseases 2016 11:31
Published on: 25 March 2016
Research
The term ichthyosis describes a generalized disorder of cornification characterized by scaling and/or hyperkeratosis of different skin regions. Mutations in a broad group of genes related to keratinocyte diffe...
Orphanet Journal of Rare Diseases 2016 11:4
Published on: 13 January 2016
Review
Ichthyosis with confetti (IWC) is an autosomal dominant congenital ichthyosis also known as ichthyosis variegata or congenital reticular ichthyosiform erythroderma. It manifests at birth with generalized ichth...
Orphanet Journal of Rare Diseases 2015 10:115
Published on: 17 September 2015
Research
Kindler Syndrome (KS) is an autosomal recessive skin disorder characterized by skin blistering, photosensitivity, premature aging, and propensity to skin cancer. In spite of the knowledge underlying cause of t...
Orphanet Journal of Rare Diseases 2014 9:211
Published on: 21 December 2014
Research
Bullous pemphigoid (BP) in infants is a rare but increasingly reported autoimmune blistering skin disease. Autoantibody reactivity is usually poorly characterized. Current guidelines do not address specific as...
Orphanet Journal of Rare Diseases 2014 9:185
Published on: 10 December 2014
