David de Berker

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive conditions in which the only presenting phenotype is the absence or severe hypoplasia of all fingernails and toenails. After determining linkage to chromosome 20p13, we identified homozygous or compound heterozygous mutations in the gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, in eight affected families. Rspo4 expression was specifically localized to developing mouse nail mesenchyme at embryonic day 15.5, suggesting a crucial role in nail morphogenesis.NOTE: In the version of this article initially published, the national origin of the three consanguineous families (P2–P4) was incorrectly described as Indian. The national origin of all three families (P2–P4) is Pakistani. This error has been corrected in the HTML and PDF versions of the article.

Management of Primary Hyperhidrosis A Summary of the Different Treatment Modalities

Hyperhidrosis is a common and distressing condition involving increased production of sweat. A variety of treatment modalities are used to try to control or reduce sweating. Sweat is secreted by eccrine glands innervated by cholinergic fibers from the sympathetic nervous system. Primary hyperhidrosis most commonly affects palms, axillae and soles. Secondary hyperhidrosis is caused by an underlying condition, and treatment involves the removal or control of this condition.The treatment options for primary hyperhidrosis involve a range of topical or systemic medications, psychotherapy and surgical or non-surgical invasive techniques. Topical antiperspirants are quick and easy to apply but they can cause skin irritation and have a short half life. Systemic medications, in particular anticholinergics, reduce sweating but the dose required to control sweating can cause significant adverse effects, thus, limiting the medications’ effectiveness. Iontophoresis is a simple and well tolerated method for the treatment of hyperhidrosis without long-term adverse effects; however, long-term maintenance treatments are required to keep patients symptom free. Botulinum toxin A has emerged as a treatment for hyperhidrosis over the past 5–6 years with studies showing good results. Unfortunately, botulinum toxin A is not a permanent solution, and patients require repeat injections every 6–8 months to maintain benefits. Psychotherapy has been beneficial in a small number of cases. Percutaneous computed tomography-guided phenol sympathicolysis achieved good results but has a high long-term failure rate. Surgery has also been shown to successfully reduce hyperhidrosis but, like other therapies, has several complications and patients need to be informed of these prior to undergoing surgery. The excision of axillary sweat glands can cause unsightly scarring and transthoracic sympathectomy (either open or endoscopic) can be associated with complications of compensatory and gustatory hyperhidrosis, Horner syndrome and neuralgia, some of which patients may find worse than the condition itself.

Clinical guidelines for the recognition of melanoma of the foot and nail unit

Malignant melanoma is a life threatening skin tumour which may arise on the foot. The prognosis for the condition is good when lesions are diagnosed and treated early. However, lesions arising on the soles and within the nail unit can be difficult to recognise leading to delays in diagnosis. These guidelines have been drafted to alert health care practitioners to the early signs of the disease so an early diagnosis can be sought.

Phenolic ablation of the nail matrix.

Therapeutic ablation of nail is necessary in a variety of settings. The challenge is to achieve destruction of nail matrix with minimal pain and to ensure that there is no re‐growth of nail. There are many different methods of nail ablation, with excisional surgery and phenolic ablation of matrix representing the most common. The balance of published data favours phenolic ablation as a simple procedure with low morbidity and the least chance of recurrence.

Getting ahead of head lice

Dermatologists are the nominal experts in the management of head lice in Australia, yet many dermatologists infrequently treat patients with this condition. Most people are managed in the community by school nurses, local council health officers, pharmacists, paediatricians or general practitioners. Only a small number will present to the dermatologist and commonly these patients will have tried a variety of treatments and failed to respond. Resistance is reported to all of the currently available insecticide treatments and this makes management of this common community‐acquired infestation more involved.

SURGERY CORNER Lateral longitudinal nail biopsy

Lateral longitudinal nail biopsy is the gold standard of incisional nail biopsies. It can be obtained under local anaesthetic and requires normal biopsy instruments. Preoperative planning with the patient is important in order that they have realistic expectations of the therapeutic outcome and understand how to care for the wound in the postoperative period.

The hair shaft: normality, abnormality, and genetics.

For the clinician, the mental process involved in diagnosis can include questions such as, “Does this person have a hair shaft disorder?” or at a less specific level, “Will I find out anything useful if I look at this hair under the microscope?” The notion of a hair shaft disorder suggests a disease that is defined by abnormalities of the hair shaft and in which these abnormalities are central; however, the clinical situation is seldom this well defined and, rather, more reflects the efforts of the dermatologist to explain the presenting complaint. Why does the child’s hair never grow? Is it because anagen is of limited duration and the hair stops growing before reaching any significant length? Or is it because the hair is yielding to light traction while still growing and coming out prematurely or, possibly, because the hair has some intrinsic weakness that makes it prone to snapping? It is really only the latter that constitutes a hair shaft disorder, but clues as to the other causes may be revealed by hair microscopy.

An international survey about nail histology processing techniques

There are limited data on nail histopathology techniques. The objective of this study was to examine nail histopathology techniques currently in use internationally.

Trends in Pediatric Laboratory‐Diagnosed Onychomycosis Between 2006 and 2014 in the Southwest of England

This is the largest study of laboratory‐diagnosed onychomycosis in England for children younger than 17 years. The most common (91.5%) cultured organism in this population was Trichophyton rubrum. Candida species were isolated only from fingernails, and the majority were from children younger than 5 years. Continued analysis of fungal pathogens is vital to identify changing trends.

The physical basis of cosmetic defects of the nail plate

Summary Cosmetic defects of the nail cover a range of changes. Some are variants of normal which are considered unattractive, others are part of the normal ageing process and some changes are manifestations of local or systemic disease. Interpretation of these changes relies on recognition of the specific characteristics in question and an understanding of the anatomy and biology of nails. In many instances, therapies are limited and explanation of the changes represents one of the most useful contributions the professional can make to the affected individual. This article covers some of the most common cosmetic defects of nail involving colour, surface, brittleness and behaviour of surrounding tissues. Understanding of the physical basis of these defects is limited in many cases, but current thinking is recorded.