Suzy Leech

A current and online genodermatosis database.

Clinical dermatologists have great difficulty keeping abreast of research in genetic skin disease. This is because there is too much information, in too many places, and in an unfamiliar language. In this review we have simplified and tabulated our current knowledge of the genodermatoses. We hope this ‘at a glance’ online guide will help dermatologists apply research findings to clinical practice and give informed advice to patients.

NBCCS secondary to an interstitial chromosome 9q deletion

Naevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome is a rare autosomal dominant cancer disorder. The Gorlins gene, Patched 1 (PTCH1), maps to Chromosome 9q. Germline mutations of PTCH1 occur in patients with NBCCS. The subsequent loss of the remaining allele results in cancer formation. We present a patient with NBCCS and additional phenotypic features including severe developmental delay, short stature and hypotelorism who was found to have an interstitial chromosome 9q deletion. The NBCCS phenotype in our patient occurred as a result of PTCH1 deletion in contrast with an inherited mutation of this gene.

Narrowband ultraviolet B phototherapy in children with moderate-to-severe eczema: a comparative cohort study†

There is only retrospective evidence for the efficacy of narrowband ultraviolet B (NB‐UVB) in children with eczema.

Propranolol in the treatment of infantile haemangiomas: Lessons from the European Propranolol In the Treatment of Complicated Haemangiomas (PITCH) Taskforce Survey.

Oral propranolol is widely prescribed as first‐line treatment for infantile haemangiomas (IHs). Anecdotally, prescribing practice differs widely between centres.

Coma Blisters in 2 Children on Anticonvulsant Medication

Blister formation and eccrine sweat gland necrosis have been recognized to occur in states of impaired consciousness and were first reported following barbiturate intoxication. Their etiology is complex and cannot simply be explained by pressure effects. Now that barbiturates are less frequently used, clinicians are likely to be less aware of the phenomenon of coma blister formation; however, newer drugs have also been associated with the occurrence of coma blisters. We describe 2 new associations of coma blisters and anticonvulsants in children. In the first child, blisters recurred on multiple occasions along with obtundation and edema. Our aims are to alert clinicians to the occurrence of coma blisters in children sedated on anticonvulsant medications and to report the new finding of recurrent coma blisters.

Gross generalized molluscum contagiosum in a patient with autosomal recessive hyper-IgE syndrome, which resolved spontaneously after haematopoietic stem-cell transplantation

Molluscum contagiosum (MC) is a common viral skin infection caused by a DNA virus in the Poxviridae family, which may cause widespread, chronic, large lesions resistant to conventional therapies in immunocompromised patients. The hyperimmunoglobulin E syndromes (HIES) are rare primary immunodeficiency disorders. Most cases are sporadic or autosomal dominant, but autosomal recessive (AR) inheritance has also been described, including mutations in DOCK8 (dedicator of cytokinesis 8). Prognosis has been considered poor in AR-HIES, as many patients die from squamous cell carcinomas (SCCs) and lymphoma, highlighting the value of identifying these conditions and the significance of monitoring for neoplasia. We describe an 11-old girl with severe generalized MC. The condition first developed on the child‘s face at the age of 2 years, and rapidly became widespread and increasingly disfiguring. She had two unaffected younger siblings. Other clinical features included eczema, plane warts, greatly raised IgE level (10 030 kU/L; normal range < 120 kU/L), hypergammaglobulinaemia (IgG 28.2 g/L; 6.0–13.0 g/L), eosinophilia (3.27 9 10/L; 0.04–0.4 9 10/L), pneumococcal meningitis and recurrent sinopulmonary infection. Genetic analysis was performed and identified a premature stop codon caused by change from adenine to thymine at position 271, resulting in truncation of the DOCK8 protein. In view of the poor prognosis for AR-HIES because of the risk of death from metastatic SCCs, the availability of an human leucocyte antigen-identical younger sibling, and no previous history of serious chronic infections with permanent organ damage, the child was treated with haematopoietic stem-cell transplantation (HSCT). She was conditioned with intravenous treosulfan on days 6 to 4 (total 42 g/m) and fludarabine on days 6 to 2 (total 150 mg/m) without incident. Ciclosporin and methotrexate were given for graft-versus-host disease (GVHD) prophylaxis, and she received standard antibiotic, antifungal and antiviral prophylaxis. The post-transplant course was relatively uncomplicated, with no evidence of acute GVHD. The patient did have two febrile episodes, which were treated with intravenous teicoplanin, meropenem, ceftazidime and liposomal amphotericin B (AmBisome; Gilead Sciences Ltd, Cambridge, Cambridgeshire, UK). Cryptosporidium was isolated from the patient‘s stool and was treated with nitrazoxanide. However, the MC lesions dramatically worsened and became inflamed 2 months (Figure 1) after transplant, coinciding with a sharp rise in T-lymphocyte numbers, representing immune reconstitution. All lesions subsequently spontaneously involuted and showed signs of regression, leaving mild to moderate scarring by 6 months (Figure 1) after transplant. All the other cutaneous features (eczema and plane warts) also slowly resolved spontaneously. HIES are characterized by recurrent Staphylococcus aureus skin infections, pneumonia and a raised serum IgE level. Other features include eczema and eosinophilia. The autosomal dominant forms are due to mutations in the gene STAT3 (signal transducer and activator of transcription 3). The presence of recalcitrant, widespread cutaneous viral infections, and the absence of skeletal and dental abnormalities and coarse facies, favours the clinical diagnosis of DOCK8 deficiency. Zhang et al. and Engelhardt et al. recently identified homozygous or compound heterozygous deletions and point mutations in the gene encoding DOCK8 proteins, responsible for autosomal recessive HIES. Treatment of generalized MC is notoriously challenging, with variable response seen to both local and systemic therapies (topical imiquidmod, cidofovir, diphencyprone and subcutaneous interferon-a). HSCT was

Appointment of a paediatric eczema nurse reduces inpatient admissions for atopic eczema

PA-1 Appointment of a paediatric eczema nurse reduces inpatient admissions for atopic eczema S.J. Brown, S.N. Leech, F.J. Eccleston and A.E.M. Taylor Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, U.K. Atopic eczema accounts for a large proportion of the paediatric dermatology workload and its incidence appears to be increasing (Taylor B, Wadsworth J, Wadsworth M, Peckham C. Changes in the reported prevalence of childhood eczema since the 1939-45 war. Lancet 1984; 2:1255-7). The role of dermatology nurses in the education and treatment of children with eczema has been reviewed (Courtenay M, Carey N. Nurse-led care in dermatology: a review of the literature. Br J Dermatol 2006; 154:1–6). In order to meet service demands with optimal management in 2001 a paediatric eczema nurse was appointed to run eczema follow-up clinics and to provide open access for advice and outpatient treatment. To test the hypothesis that this service has reduced the number of admissions for eczema we examined the data regarding paediatric dermatology admissions in two years preceding the introduction of eczema nurse clinics (1997 and 1999) and two years following their establishment (2003 and 2005). The total number of new and review patients seen in the paediatric dermatology clinics remained static, averaging approximately 6000 per year. The overall admission rate for paediatric dermatology patients has also not changed significantly in this time (mean of 28Æ8 admissions per year). The number of eczema admissions per year has fallen from 20 to 12 within this period and as a proportion of total admissions this represents a fall from approximately 75% to 50%. To analyse this data further, the percentage of eczema admissions per month was calculated and a Kolmogorov– Smirnov test was performed. This showed that the reduction in number of eczema admissions was after the appointment of the paediatric eczema nurse was statistically significant (P 1⁄4 0Æ08). A possible confounding factor that may have contributed to this change is the introduction of 0Æ03% topical tacrolimus to the hospital formulary in May 2002. In our opinion this is unlikely to have had a significant impact on admission rates since only 5% of the paediatric eczema patients received this treatment in a twelve month period. In conclusion, this data suggests that the appointment of a paediatric eczema nurse has altered the management of atopic eczema in secondary care. There has been a reduction in the number of hospital admissions; this provides a more patient-orientated service and also has potential cost implications. PA-2 Eczema: education, education, education. Are community clinics beneficial in treating paediatric eczema? Review of a nurse led community paediatric eczema clinic 2003-2005 P.B.J. Farrant, L. Benfield and M. Price Brighton General Hospital, Brighton, U.K. In trying to address the Department of Health’s desire to treat chronic conditions in the community, and with funding from the Action Learning Set, a pilot nurse-led paediatric eczema clinic was set up in August 2003. The main aim was to assess, treat and educate children with mild to moderate eczema. A weekly community clinic was set up, open to referral from local general practitioners (GPs), health visitors and dermatologists. Patients were assessed and treated as per local protocol. A large part of the session was dedicated to patient and parent education. Although this clinic was set up as a service rather than a study, patients were given a questionnaire to assess their satisfaction, and in 2004-2005 all GPs were contacted to look at consultation rates in the 6 months before and after the intervention. In 2003–2004, 53 new patients were seen, of whom 25 were seen once only, and 28 required a follow-up appointment. Of the 53, 47 were referred from primary care and six from the dermatology consultant (four were diverted after receipt of a referral letter to secondary care but before consultation). In 2004–2005, 84 new patients were seen, and 78 follow-up appointments were given (including any necessary follow-up from the 2003–2004 cohort). Seventy-six referrals came from primary care, and eight from secondary care, six of whom were referred to the clinic instead of receiving a secondary care appointment. Two patients were referred from this clinic to secondary care. The questionnaire was filled in by 26 parents, with all finding the clinic helpful, and 21 feeling that their child’s eczema had improved. Three children stayed the same, one was unsure whether the eczema had improved or not, and one had deteriorated because of a reaction to one of the creams Twenty-seven GPs responded to their questionnaire. In the six months prior to the intervention a total of 77 skin-related consultations had occurred, which decreased to 32 in the six months after intervention,13 of which were due to the need for repeat prescriptions. The majority of GPs who responded (26 of 27) were in favour of this service. In summary there seems to be a marked decrease in the number of primary care consultations before and those after the nurse-led clinic was established. One problem has been the inability of our nurse to prescribe the treatments, which led to at least 13 follow-ups with the GPs. Only 10 of

STAT5B deficiency due to a novel missense mutation in the coiled-coil domain

A novel homozygous missense mutation in the coiled-coil domain of STAT5B causes an immunodeficiency syndrome characterised by short stature due to GH insensitivity, immune dysregulation and hypothyroidism but currently without pulmonary disease or T-cell lymphopenia.

Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation.

Multifocal capillary malformation (CM) is the cardinal feature of patients with RASA1 mutations. These CMs are ‘red flags’, signalling the possible association with an arteriovenous malformation (AVM) or an arteriovenous fistula (AVF). We report an 8‐year‐old boy who presented with > 20 CMs, who was found to have a novel mutation in the RASA1 gene. Radiological screening of children with RASA1 mutations is not standardized, and we elected to carry out baseline magnetic resonance imaging of the brain and spine in our case, which gave normal results. We discuss the recent literature and our approach in the management of such a case.

Dry skin and blistering in childhood

A 5-year-old boy presented with a history of dry scaly skin. He had been born at term, with no collodion membrane or erythroderma noted at delivery. Skin changes were noted soon after birth, with widespread dryness and occasional blistering, mainly affecting the toes. Previous treatment with emollients and topical corticosteroids had not resulted in improvement. There was no family history of dermatological disease, and his parents were not related. Physical examination revealed mild, light-grey hyperkeratosis, particularly on the extensor aspects of the skin overlying the joints and the dorsal surfaces of the feet. In addition, superficially denuded areas with collarette-like borders (known as the Mauserung phenomenon) were seen, most notably on the knees (Fig. 1a–c). The palms, soles, head and neck were spared, and the hair and all nails were normal.