Eosinophilic pustular folliculitis: a 40 year retrospect.

Eosinophilic pustular folliculitis (EPF) is a noninfectious eosinophilic infiltration of hair follicles first described 40 years ago. There are 3 variants: classic EPF, immunosuppression-associated (mostly HIV-related), and infancy-associated EPF. EPF has been classified as an AIDS-defining illness. In both children and adults EPF should be viewed as a possible cutaneous sign of immunosuppression. However, it may also be seen in persons with normal immune status. We review EPF on the 40th anniversary of its original description.

Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33.

Familial eosinophilia (FE) is an autosomal dominant disorder characterized by peripheral hypereosinophilia of unidentifiable cause with or without other organ involvement. To localize the gene for FE, we performed a genomewide search in a large U.S. kindred, using 312 different polymorphic markers. Seventeen affected subjects, 28 unaffected bloodline relatives, and 8 spouses were genotyped. The initial linkage results from the genome scan provided evidence for linkage on chromosome 5q31-q33. Additional genotyping of genetic markers located in this specific region demonstrated significant evidence that the FE locus is situated between the chromosome 5q markers D5S642 and D5S816 (multipoint LOD score of 6.49). Notably, this region contains the cytokine gene cluster, which includes three genes-namely, those for interleukin (IL)-3, IL-5, and granulocyte/macrophage colony-stimulating factor (GM-CSF)-whose products play important roles in the development and proliferation of eosinophils. These three cytokine genes were screened for potential disease-specific mutations by resequencing of a subgroup of individuals from the present kindred. No functional sequence polymorphisms were found within the promoter, the exons, or the introns of any of these genes or within the IL-3/GM-CSF enhancer, suggesting that the primary defect in FE is not caused by a mutation in any one of these genes but, rather, is caused by another gene in the area.

Congenital Wells syndrome.

We describe a girl with eosinophilic cellulitis (Wells syndrome) in whom the disease appeared immediately after birth with subcutaneous nodules on the scalp and trunk, followed by the characteristic skin swelling and erythema at the age of 6 months. The lesions disappeared after a few weeks, but recurred several times. The mother had consumed large quantities of medications during the pregnancy, including iron, vitamins, and "natural remedies." Based on time of onset, this may be regarded as a unique case of congenital Wells syndrome. Its relation to the medications taken by the mother remains speculative. Subcutaneous nodules may be the presenting sign of Wells syndrome in children.

Haematological, ocular and skeletal abnormalities in a samoyed family.

Haematological, ocular and skeletal abnormalities were documented in a samoyed male and its five offspring. Haematological abnormalities, found in repeated tests in all the dogs, included marked eosinophilia, eosinophilic bands and absence of Barr bodies. Two of the dogs had bilateral buphthalmia, retinal detachments and other ocular abnormalities. Three of the dogs had skeletal abnormalities including chondrodysplasia (dwarfism) and brachygnathia (undershot jaw). A similar combination of inherited skeletal and ocular disorders, without the haematological abnormalities, has been described in samoyeds. Acquired causes for the haematological findings, which are similar to the inherited Pelger-Huët anomaly described in several species, have been eliminated. Eosinophilic bands and scarcity of Barr bodies could be a marker, or a previously unreported manifestation, of an inherited disorder in samoyeds.