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We report a large family with ichthyosis bullosa of Siemens (IBS) including eight affected members spanning three generations. The classical features of the disease were consistently observed with blistering, superficial peeling of the skin, and localized lichenified hyperkeratosis mainly confined to the limbs. Phenotypic variation, however, was also observed with some individuals exhibiting unusual clinical features. Specifically, the index patient was erythrodermic at birth; she subsequently developed a widespread pustular eruption. Erythroderma is classically absent in IBS and pustulation is very unusual. She also had hypertrichosis of the limbs, as did an affected female first cousin. This has not previously been reported in IBS. Electron microscopy showed complex aggregates of keratin in the spinous and granular layers associated, in places, with remarkably little cell lysis. Sequencing of genomic DNA revealed a mutation (E493K) in keratin 2e. A review of the literature on IBS indicates that E493K is the most commonly reported mutation to date and might represent a mutational hotspot for this disease.

summary Three patients are described who developed numerous pinhead sized pustules within areas of a widespread toxic erythema. The eruption was precipitated by food poisoning in one patient, a suspected, but blood-culture-negative septicaemia in another and in the third patient, by a cephalosporin. This self-limiting syndrome consists of fever, a pustular and erythematous eruption, a neutrophil leucocytosis, subcorneal and spongiform pustules but without a history of psoriasis. We believe that this entity of toxic pustuloderma represents a severe form of toxic erythema.

The effect of the epicutaneous application of 0.1% and 1.0% hexyl nicotinate lotion on upper limb skin blood flow was investigated in 25 patients with Raynaud's phenomenon (RP) and five healthy volunteers. Assessments were made using laser Doppler velocimetry. The 0.1% lotion induced an increase in cutaneous blood flow in both controls and patients when applied at different sites on the upper limb. Increased cutaneous blood flow occurred more often when the lotion was applied to the forearm than to the fingers. A greater increase in blood flow and an increased percentage of positive responses was elicited with the 1.0% hexyl nicotinate lotion. Hexyl nicotinate lotion may be of value in the topical treatment of RP.