Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.

BACKGROUND: Autosomal-recessive congenital ichthyosis (ARCI) is a heterogeneous group of ichthyoses presenting at birth. Self-improving congenital ichthyosis (SICI) is a subtype of ARCI and is diagnosed when skin condition improves remarkably (within years) after birth. So far, there are sparse data on SICI and quality of life (QoL) in this ARCI subtype. This study aims to further delineate the clinical spectrum of SICI as a rather unique subtype of ARCI. OBJECTIVES: This prospective study included 78 patients (median age: 15 years) with ARCI who were subdivided in SICI (n = 18) and non-SICI patients (nSICI, n = 60) by their ARCI phenotype. METHODS: Quality of life (QoL) was assessed using the (Children's) Dermatology Life Quality Index. Statistical analysis was performed with chi-squared and t-Tests. RESULTS: The genetically confirmed SICI patients presented causative mutations in the following genes: ALOXE3 (8/16; 50.0%), ALOX12B (6/16; 37.5%), PNPLA1 (1/16; 6.3%) and CYP4F22 (1/16; 6.3%). Hypo-/anhidrosis and insufficient vitamin D levels (<30 ng/mL) were often seen in SICI patients. Brachydactyly (a shortening of the 4th and 5th fingers) was statistically more frequent in SICI (P = 0.023) than in nSICI patients. A kink of the ear's helix was seen in half of the SICI patients and tends to occur more frequently in patients with ALOX12B mutations (P = 0.005). QoL was less impaired in patients under the age of 16, regardless of ARCI type. CONCLUSIONS: SICI is an underestimated, milder clinical variant of ARCI including distinct features such as brachydactyly and kinking of the ears. Clinical experts should be aware of these features when seeing neonates with a collodion membrane. SICI patients should be regularly checked for clinical parameters such as hypo-/anhidrosis or vitamin D levels and monitored for changes in quality of life.

[Autoinflammatory skin diseases : Diagnosis and therapy]. / Autoinflammatorische Dermatosen : Diagnostik und Therapie.

Autoinflammatory syndromes are characterized by an exaggerated activation of the innate immune system and frequently present with skin symptoms. In contrast to autoimmune disorders no specific autoantibodies or autoreactive immune cells are detected. Thus, the diagnosis is usually difficult and can only be made by a careful interpretation of anamnestic, clinical and laboratory parameters. In some hereditary autoimmune syndromes specific genetic mutations are described and can be helpful for the diagnosis. For treatment of these disorders both classic immunomodulatory drugs and specific cytokine inhibitors are used, mainly directed against interleukin­1. Long-term therapy is generally required.

[Raynaud's phenomenon : Practical management]. / Raynaud-Phänomen : Praktisches Management.

Raynaud's phenomenon (RP) is a frequent and painful vasospasm of small arteries localized in acral body regions (most frequently the fingers). The more frequent so-called primary RP is caused merely by a functional dysregulation of the tonus of vascular walls. In contrast, the rarer secondary RP is additionally associated with structural abnormalities of blood vessels. Knowledge of RP is important for rheumatologists because secondary RP can be associated with the presence or development of severe underlying diseases, especially with systemic sclerosis. Thus, the rheumatologist has to be aware of this condition. In this article the diagnostic procedures and the most important treatment approaches are summarized.