ABSTRACT
This report of necrobiotic xanthogranuloma associated with chronic lymphocytic leukaemia describes the response of skin lesions to chlorambucil. Characteristic clinical and histological features of necrobiotic xanthogranuloma are presented, as well as a discussion regarding management and the use of chlorambucil.
Subject(s)
Antineoplastic Agents, Alkylating/therapeutic use , Chlorambucil/therapeutic use , Necrobiotic Xanthogranuloma/drug therapy , Humans , Male , Middle Aged , Necrobiotic Xanthogranuloma/pathologySubject(s)
Entomophthorales/isolation & purification , Zygomycosis/pathology , Antifungal Agents/therapeutic use , Australia , Child, Preschool , Drug Therapy, Combination , Entomophthorales/physiology , Fluconazole/therapeutic use , Humans , Male , Middle Aged , Naphthalenes/therapeutic use , Terbinafine , Treatment Outcome , Tropical Climate , Zygomycosis/drug therapy , Zygomycosis/microbiologyABSTRACT
Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is a rare autosomal recessive genodermatosis resulting from mutations in the PKP1 gene, encoding the desmosomal plaque protein plakophilin-1 (PKP1). Mutations in PKP1 may manifest with skin fragility and erosions, patches of scale crust on the trunk and limbs, peri-oral cracking and inflammation, hypotrichosis, palmoplantar keratoderma with painful fissuring and other somewhat variable ectodermal anomalies. Ten cases of the syndrome have been reported. We report a further case of this desmosomal genodermatosis. A 14-month old child, born to consanguineous parents, presented with a history of neonatal bullae and subsequent development of dystrophic nails, sparse eyelashes and eyebrows, woolly scalp hair, abnormal dental development and a desquamating erythematous rash at sites of trauma. A clinical diagnosis of ED-SFS was supported by skin biopsy findings of suprabasal intraepidermal clefting and a loss of immunoreactivity for PKP1. Sequencing of genomic DNA revealed a homozygous 5 base pair deletion in exon 5 of the PKP1 gene, designated c.897del5 (CAACC). This new mutation creates a frameshift, leading to a downstream premature termination codon, p.Pro299fsX61. This case highlights the clinicopathological consequences of inherited mutations in the PKP1 gene and illustrates the key role of desmosomes in skin biology.
Subject(s)
Base Sequence , Ectodermal Dysplasia/genetics , Plakophilins/genetics , Sequence Deletion , Skin Diseases/genetics , Ectodermal Dysplasia/pathology , Female , Homozygote , Humans , Infant , Skin Diseases/pathologyABSTRACT
Four infants aged between 8 and 13 months presented between November 2002 and May 2006 with dermatitis of the lower abdomen, perineum or buttocks. All lived in semi-rural properties in the Adelaide Hills and had not travelled outside South Australia. Wandering thread-like serpiginous tracks were evident on examination, consistent with a diagnosis of cutaneous larva migrans. No abnormalities were detected on full blood examination, Strongyloides stercoralis serology or faecal analysis. Treatment with oral albendazole resulted in rapid resolution of symptoms. An epidemiological survey was undertaken which suggested possums or millipedes may have been the source of nematode larvae, the precise nature of which is unclear but could include Parastrongyloides trichosuri and Rhabditis necromena.
