Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa.

BACKGROUND: Epidermolysis bullosa pruriginosa (EBP) is rare a clinical variant of dystrophic epidermolysis bullosa characterized by trauma-induced bullae formation, milia and nail dystrophy accompanied by severe pruritus. Treatment pruritus of EBP focuses on immunosuppressive treatment with limited efficacy. Treatment strategies are not well-established. AIM: To provide the genetic characterization of a multi-generational EBP family and discuss the efficacy of intravenous immunoglobulin treatment in EBP. MATERIALS & METHODS: The clinical characteristics of patients diagnosed with EBP in three consecutive generations were determined. The mutation is analyzed in the index patient's genomic DNA by Sanger sequencing, and this mutation was confirmed in other affected members of the family. Index case with severe phenotype was treated with intravenous immunoglobulin (IVIG). RESULTS: A heterozygous single nucleotide transition, c.6127G>A, in exon 73 of COL7A1 was identified in all affected members. Physical examination of patients revealed lichenoid papules on extensor surfaces of extremities, excoriations, milia formation and nail dystrophy. Majority of patients had elevated serum IgE levels (%86 (6/7)) without a medical history for atopy. Female patients had generalized involvement and severe phenotype. The skin lesions of the index case were refractory to high dose systemic steroids and cyclosporine treatment. Lesions improved significantly with intravenous immunoglobulin therapy. CONCLUSION: In severe cases, unresponsive to other therapies, IVIG may be a preferable therapeutic approach to modulate the inflammatory response in patients with EBP.

Lichen sclerosus associated with Nd:YAG laser therapy.

Laser is the most efficient and popular method in hair removal. The most common side effects of laser assisted hair removal are pain, erythema, edema, hypopigmentation, hyperpigmentation, blistering, crusting, erosions, purpura, folliculitis, and scar formation ( 1 ). Herein, for the first time we describe a case of lichen sclerosus (LS) following hair removal with long pulsed 1064 nm Nd:YAG laser therapy.

A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome.

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst. These clinical findings were compatible with the diagnosis of NBCCS, and a novel mutation, c.1249delC; p.Gln417Lysfs*15, was found in PTCH1 causing a premature stop codon.

Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene.

H syndrome (OMIM 602782) is a very rare autosomal recessive genodermatosis with multisystem involvement. Hallmarks of this disorder are juvenile onset and progressive, hyperpigmented, hypertrichotic lesions with histiocytic infiltration. Associated systemic manifestations form a long list, and there is high variability between patients. In some patients, dysmorphic and other systemic features may be so subtle that the disorder may readily be mistaken as an acquired skin disease and treated as such. Herein, we report a novel homozygous c.1339G>A (p.Glu447Lys) mutation in the SLC29A3 gene in a patient with skin-dominant presentation of H syndrome. Additionally, due to the present case, double superior vena cava can be added to the list of possible cardiovascular manifestations of H syndrome.

An Unusual Cause of Oligoarthritis and Erythema Nodosum: Idiopathic Granulomatous Mastitis.

Idiopathic granulomatous mastitis (IGM) is an unusual benign inflammatory disease of breast. Breast cancer mimics IGM both radiologically and clinically. However, IGM is a benign disease and awareness of such an entity prevents unnecessary surgical procedures. Although its etiology is unknown, it may be an autoimmune disease. There are few patients reported in the literature presenting with reactive arthritis and/or erythema nodosum accompanying IGM of breast. Granulomatous mastitis should be considered as a possible underlying cause of arthritis and erythema nodosum. In this article, we report this interesting association of IGM as an underlying cause of arthritis and generalized erythema nodosum in a 32-year-old female patient. Comprehensive examination for granulomatous mastitis showed no apparent underlying cause. Indomethacin was beneficial in treatment of arthritis and erythema nodosum. Resistant IGM was responsive to colchicine treatment. Clinical management and therapeutic approach have been discussed in detail.