TY  - JOUR
A1  - Ballin, Nadja
A1  - Hotz, Alrun
A1  - Bourrat, Emmanuelle
A1  - Küsel, Julia
A1  - Oji, Vinzenz
A1  - Bouadjar, Bakar
A1  - Brognoli, Davide
A1  - Hickman, Geoffroy
A1  - Heinz, Lisa
A1  - Vabres, Pierre
A1  - Marrakchi, Slaheddine
A1  - Leclerc‐Mercier, Stéphanie
A1  - Irvine, Alan
A1  - Tadini, Gianluca
A1  - Hamm, Henning
A1  - Has, Cristina
A1  - Blume‐Peytavi, Ulrike
A1  - Mitter, Diana
A1  - Reitenbach, Marina
A1  - Hausser, Ingrid
A1  - Zimmer, Andreas D.
A1  - Alter, Svenja
A1  - Fischer, Judith
T1  - Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
JF  - Human Mutation
N2  - 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.
KW  - ARCI
KW  - ARCI EM type III
KW  - collodion baby
KW  - ichthyosis
KW  - NIPAL4
Y1  - 2019
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-212747
VL  - 40
IS  - 12
ER  - 
TY  - JOUR
A1  - Nothhaft, Matthias
A1  - Klepper, Joerg
A1  - Kneitz, Hermann
A1  - Meyer, Thomas
A1  - Hamm, Henning
A1  - Morbach, Henner
T1  - Hemorrhagic bullous Henoch-Schönlein Purpura: case report and review of the literature
JF  - Frontiers in Pediatrics
N2  - Henoch-Schönlein 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.
KW  - henoch-schönlein purpura
KW  - vasculitis
KW  - hemorrhagic
KW  - bullae
KW  - children
Y1  - 2019
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-201435
VL  - 6
ER  -