Ichthyosis follicularis, alopecia and photophobia (IFAP) is a rare genodermatosis. Most patients have been men without significant family history. We present the largest kindred of IFAP reported to date in the medical literature clearly demonstrating X-linked inheritance. The gene defect has recently been mapped to Xp22.11-p22.13. Missense mutations of the gene, MBTPS2, which codes for an intramembrane zinc metalloprotease essential for cholesterol homeostasis and endoplasmic reticulum stress response, are associated with the IFAP phenotype in this kindred. We describe the clinical features and discuss the differential diagnosis of IFAP. Our proband has benefited from treatment with acitretin.
We present three cases of Kawasaki disease in which an annular eruption was the predominant cutaneous finding. The provisional diagnosis was Stevens-Johnson syndrome. However, the annular lesions were not typical of Stevens-Johnson syndrome: the lips were crusted without mucosal ulceration and the conjunctivitis was non-purulent without corneal erosions. Dermatologists are often involved in the initial assessment of this multisystem disease and should be aware of the variety of cutaneous manifestations, as rapid treatment is known to decrease morbidity and mortality.
A 33-year-old woman with a background of thalassaemia major presented with a 3-month history of yellowish plaques on the back of her neck bilaterally and alterations in the texture of the skin in both axillae. Examination of these lesions showed yellowish cobblestone plaques and coalescing papules in both axillae. Pseudoxanthoma elasticum (PXE)-like lesions were confirmed histopathologically. PXE-like lesions in association with thalassaemia major are an uncommon occurrence. Due to the increase in the survival rate of thalassaemia major patients on treatment, the development of these lesions is likely to increase. The histopathological manifestation of these lesions mimics that of hereditary PXE and is associated with severe vascular complications. This case highlights the importance of recognising this rare disorder and the role dermatologists have in establishing the diagnosis and advising on appropriate screening for complications.
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