@article{BallinHotzBourratetal.2019,
  author    = {Ballin, Nadja and Hotz, Alrun and Bourrat, Emmanuelle and K{\"u}sel, Julia and Oji, Vinzenz and Bouadjar, Bakar and Brognoli, Davide and Hickman, Geoffroy and Heinz, Lisa and Vabres, Pierre and Marrakchi, Slaheddine and Leclerc-Mercier, St{\´e}phanie and Irvine, Alan and Tadini, Gianluca and Hamm, Henning and Has, Cristina and Blume-Peytavi, Ulrike and Mitter, Diana and Reitenbach, Marina and Hausser, Ingrid and Zimmer, Andreas D. and Alter, Svenja and Fischer, Judith},
  title     = {Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4},
  series = {Human Mutation},
  volume    = {40},
  journal   = {Human Mutation},
  number    = {12},
  doi       = {10.1002/humu.23883},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-212747},
  pages     = {2318-2333},
  year      = {2019},
  abstract  = {Autosomal recessive congenital ichthyosis (ARCI) belongs to a heterogeneous group of disorders of keratinization. To date, 10 genes have been identified to be causative for ARCI. NIPAL4 (Nipa-Like Domain-Containing 4) is the second most commonly mutated gene in ARCI. In this study, we present a large cohort of 101 families affected with ARCI carrying mutations in NIPAL4. We identified 16 novel mutations and increase the total number of pathogenic mutations in NIPAL4 to 34. Ultrastructural analysis of biopsies from six patients showed morphological abnormalities consistent with an ARCI EM type III. One patient with a homozygous splice site mutation, which leads to a loss of NIPAL4 mRNA, showed additional ultrastructural aberrations together with a more severe clinical phenotype. Our study gives insights into the frequency of mutations, a potential hot spot for mutations, and genotype-phenotype correlations.},
  language  = {en}
}
@article{NothhaftKlepperKneitzetal.2019,
  author    = {Nothhaft, Matthias and Klepper, Joerg and Kneitz, Hermann and Meyer, Thomas and Hamm, Henning and Morbach, Henner},
  title     = {Hemorrhagic bullous Henoch-Sch{\"o}nlein Purpura: case report and review of the literature},
  series = {Frontiers in Pediatrics},
  volume    = {6},
  journal   = {Frontiers in Pediatrics},
  doi       = {10.3389/fped.2018.00413},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-201435},
  pages     = {413},
  year      = {2019},
  abstract  = {Henoch-Sch{\"o}nlein Purpura (HSP) or IgA vasculitis is the most common systemic vasculitis of childhood and may affect skin, joints, gastrointestinal tract, and kidneys. Skin manifestations of HSP are characteristic and include a non-thrombocytopenic palpable purpura of the lower extremities and buttocks. Rarely, HSP may initially present as or evolve into hemorrhagic vesicles and bullae. We present an otherwise healthy 5-year-old boy with an acute papulovesicular rash of both legs and intermittent abdominal pain. After a few days the skin lesions rapidly evolved into palpable purpura and hemorrhagic bullous lesions of variable size and severe hemorrhagic HSP was suspected. A histological examination of a skin biopsy showed signs of a small vessel leukocytoclastic vasculitis limited to the upper dermis and direct immunofluorescence analysis revealed IgA deposits in vessel walls, compatible with HSP. To further characterize the clinical picture and treatment options of bullous HSP we performed an extensive literature research and identified 41 additional pediatric patients with bullous HSP. Two thirds of the reported patients were treated with systemic corticosteroids, however, up to 25\% of the reported patients developed skin sequelae such as hyperpigmentation and/or scarring. The early use of systemic corticosteroids has been discussed controversially and suggested in some case series to be beneficial by reducing the extent of lesions and minimizing sequelae of disease. Our patient was treated with systemic corticosteroids tapered over 5 weeks. Fading of inflammation resulted in healing of most erosions, however, a deep necrosis developing from a large blister at the dorsum of the right foot persisted so that autologous skin transplantation was performed. Re-examination 11 months after disease onset showed complete clinical remission with re-epithelialization but also scarring of some affected areas.},
  language  = {en}
}