We describe the diversity of indications for laser hair removal (LHR) therapy and compare our experience with the literature. Patients' case notes referred to the Birmingham Regional Skin Laser Centre between 2003 and 2011 for laser hair removal, with indications other than hirsutism, were reviewed retrospectively. Thirty-one treated patients with the following indications were identified: hair-bearing skin grafts/flaps, intra-oral hair-bearing flap, Becker's naevus, localised nevoid hypertrichosis, peristomal hair-bearing skin, scrotal skin prior to vaginoplasty in male-to-female (MTF) gender reassignment, pilonidal sinus disease (PSD), pseudofolliculitis barbae (PFB) and hidradenitis suppurativa (HS). Seven patients with the following indications have been reported before: intra-oral hair-bearing graft, naevoid hypertrichosis and peristomal hair-bearing skin. A clinical review of the evidence available for each indication is provided. Our experience and that in the published literature suggest that LHR is a safe, well-tolerated and effective treatment modality for the indications we report, leading to significant symptom and functional improvement with high patient satisfaction. LHR appears effective in the treatment of chronic inflammatory conditions such as PSD, PFB and HS, particularly at an early disease stage. We aim to increase awareness of the diversity of laser hair removal indications and add evidence to the medical literature of the wide range of indications for this useful treatment modality.
Mutation analysis in keratins 5/14 (K5/14) had been performed in five Polish families with epidermolysis bullosa simplex (EBS) to extend genotype-phenotype correlation and to add to the mutation database. All the patients had been clinically classified into two subtypes of EBS; Weber-Cockayne (EBS-WC) and Dowling-Meara (EBS-DM) as well as one case of EBS with mottled pigmentation (EBS-MP). DNA from patients and their family members was assessed for mutations in K5 or 14 using polymerase chain reaction amplification and subsequent direct sequencing. We identified four different missense mutations in K5 and one missense mutation in K14. Three of these are novel. Mutations associated EBS-DM resided in the highly conserved 20 amino acids end of the 1A domain in K5. Direct nucleotide sequencing of a case of EBS-MP revealed a heterozygous P25L mutation in K5. However, no genotype-phenotype correlation was identified in families with EBS-WC. The present study demonstrates the first series of molecular genetic data in EBS from Poland.
We propose that APSS is under-reported and widely misdiagnosed as EBS-loc, with significant counselling implications as APSS is autosomal recessive while EBS-loc is dominant. We recommend screening for TGM5 mutations when EBS-loc is suspected but not confirmed by mutations in KRT5 or KRT14. Our report trebles the number of known TGM5 mutations. It provides further evidence that p.Gly113Cys is a founder mutation in the European population. This is consistent with the striking ethnic distribution of APSS in U.K., where the majority of patients are of nonconsanguineous white European origin, in contrast to the pattern of other recessive skin disorders.
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