Onychophagia: detailed clinical characteristics.

BACKGROUND: Onychophagia is a common disorder affecting 20% to 30% of the general population. It is defined as habitual nail biting and can cause various changes in the nail units. However, to date, there has been a paucity of data focusing on nail deformities related to onychophagia. This study was performed to investigate the clinical characteristics of onychophagia in Korea. METHODS: This study included 53 patients with onychophagia who visited the Pusan National University Hospital (Busan and Yangsan) over a 10-year period (2011-2020). We retrospectively reviewed medical records and clinical and dermoscopic photographs. RESULTS: All 10 fingernails were affected in 37.7% of the patients. The left thumbnail was the most predominantly affected site (81.1%). Clinical findings showed that short nails with ragged distal borders were the most common presentation (100.0%), followed by generalized or patchy rough areas (50.9%), linear and pinpoint hemorrhage (32.1%), longitudinal melanonychia (30.2%), transverse groove (28.3%), brittleness (28.3%), macrolunula (24.5%), washboard nail (13.2%), and pterygium (3.8%). Of the patients, 88.7% had periungual complications, such as periungual exfoliation (77.4%), absent or ragged cuticle (52.8%), hyponychial hyperkeratosis (37.7%), and paronychia (15.1%). CONCLUSIONS: Although onychophagia is a common disorder, its clinical characteristics have not been reported in the literature. The results of this study may be helpful in managing patients with onychophagia.

Identification of clinically useful predictive genetic variants in pachyonychia congenita.

BACKGROUND: Pachyonychia congenita (PC) refers to a group of autosomal dominant disorders caused by mutations in five keratin genes (KRT16,KRT6A,KRT17,KRT6B or KRT6C). Current disease classification is based on the gene harbouring disease-causing variants. AIMS: We harnessed the International Pachyonychia Congenita Research Registry (IPCRR) containing both clinical and molecular data on patients with PC worldwide, to identify genetic variants predicting disease severity. METHODS: We ascertained 815 individuals harbouring keratin mutations registered in the IPCRR. We looked for statistically significant associations between genetic variants and clinical manifestations in a subgroup of patients carrying mutations found in at least 10% of the cohort. Data were analysed using χ2 and Kruskal-Wallis tests. RESULTS: We identified five mutations occurring in at least 10% of the patients registered in the IPCRR. The KRT16 p.L132P mutation was significantly associated with younger age of onset, presence of palmar keratoderma oral leucokeratosis and a higher number of involved nails. By contrast, the KRT16 p.N125S and p.R127C mutations resulted in a milder phenotype featuring a decreased number of involved nails and older age of onset. Patients carrying the p.N125S mutation were less likely to develop palmar keratoderma while p.R127C was associated with an older age of palmoplantar keratoderma onset. Moreover, the KRT17 p.L99P mutation resulted in an increased number of involved fingernails and patients demonstrating 20-nail dystrophy, while the opposite findings were observed with KRT17 p.N92S mutation. CONCLUSIONS: We have identified novel and clinically useful genetic predictive variants in the largest cohort of patients with PC described to date.

Toenail abnormalities in rheumatoid arthritis patients are associated with radiographic damage and impact disability: a cross sectional study nested within a cohort.

OBJECTIVES: Cutaneous involvement is an extra-articular manifestation of rheumatoid arthritis (RA). This includes nail abnormalities, which are often overlooked. We described nail findings in RA patients currently attending an early arthritis cohort (n=145), and associated them with disease activity and/or damage, as well as patient-reported outcomes. METHODS: A standardised nail examination was performed in 122 patients (84.1% of the cohort), concomitant to the rheumatic assessment. Disability, quality of life and perceived nail-related health were also assessed. Nail findings and their location were recorded and classified according to standardised definitions. Logistic and linear regression models were used to investigate predictors of nail findings and to identify the impact of toenail findings on disability, which was evaluated with the HAQ. Patients consented to participate. RESULTS: Patients were primarily middle-aged females, with median follow-up of 9 years, and had disease under control. Most patients (62.3%) had at least one nail finding and these patients scored lower their nail-related health. The median (IQR) of findings/abnormalities per patient was 3 (2-5) and the number of nails affected per patient was 10 (2-12). Age (OR: 1.04, 95%CI: 1.007-1.074) and erosive disease (OR: 2.26, 95%CI: 1.1-5.1) were associated with nail findings. Toenail involvement was consistently associated with HAQ score out of normal range (OR=3.4, 95%CI=1.24-9.35, p=0.02). There was a linear association between the number of toenails affected and the HAQ score. CONCLUSIONS: Nail abnormalities are common and heterogeneous findings in RA patients; they are associated with erosive damage and impact disability.

Nail changes in alopecia areata: an update and review.

Nail changes are a common feature of alopecia areata (AA) and are a significant source of cosmetic disfigurement and functional impairment. This review provides an update of the prevalence, clinical and histopathological features, pathogenesis, differential diagnosis, clinical course, prognosis, and management of nail changes in patients with AA. Searches for peer-reviewed journal articles were conducted using the PubMed/MEDLINE database with the search terms "nail changes alopecia areata," "alopecia areata nails," and specific searches on "trachyonychia alopecia areata" and "pitting alopecia areata." Other sources of articles included the reference lists of retrieved articles. Nail changes are a common feature of AA, with an average prevalence of 30%, and can cause significant disfigurement and loss of function. Pitting and trachyonychia were by far the most common manifestations of AA, with an average prevalence of 20 and 8%, respectively. Red spotted lunulae, onycholysis, and punctate leukonychia were other reported findings. Other etiologies, such as onychomycosis or lichen planus, may coexist with or confound the diagnosis. There is limited published data on the clinical manifestations of AA-associated nail changes and therapeutic options. Larger controlled trials are necessary to guide treatment decisions.

Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.

In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the current knowledge of these syndromes and to propose consensus surveillance recommendations. Herein, we summarize clinical and genetic aspects of RASopathies and Sotos, Weaver, Rubinstein-Taybi, Schinzel-Giedion, and NKX2-1 syndromes as well as specific metabolic disorders known to be associated with increased childhood cancer risk. In addition, the expert panel reviewed whether sufficient data exist to make a recommendation that all patients with these disorders be offered cancer surveillance. For all syndromes, the panel recommends increased awareness and prompt assessment of clinical symptoms. Patients with Costello syndrome have the highest cancer risk, and cancer surveillance should be considered. Regular physical examinations and complete blood counts can be performed in infants with Noonan syndrome if specific PTPN11 or KRAS mutations are present, and in patients with CBL syndrome. Also, the high brain tumor risk in patients with L-2 hydroxyglutaric aciduria may warrant regular screening with brain MRIs. For most syndromes, surveillance may be needed for nonmalignant health problems. Clin Cancer Res; 23(12); e83-e90. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series.

Nail abnormalities in patients with vitiligo.

BACKGROUND: Vitiligo is an acquired pigmentary skin disorder affecting 0.1-4% of the general population. The nails may be affected in patients with an autoimmune disease such as psoriasis, and in those with alopecia areata. It has been suggested that nail abnormalities should be apparent in vitiligo patients. OBJECTIVE: We sought to document the frequency and clinical presentation of nail abnormalities in vitiligo patients compared to healthy volunteers. We also examined the correlations between nail abnormalities and various clinical parameters. METHODS: This study included 100 vitiligo patients and 100 healthy subjects. Full medical histories were collected from the subjects, who underwent thorough general and nail examinations. All nail changes were noted. In the event of clinical suspicion of a fungal infection, additional mycological investigations were performed. RESULTS: Nail abnormalities were more prevalent in the patients (78%) than in the controls (55%) (p=0.001). Longitudinal ridging was the most common finding (42%), followed by (in descending order): leukonychia, an absent lunula, onycholysis, nail bed pallor, onychomycosis, splinter hemorrhage and nail plate thinning. The frequency of longitudinal ridging was significantly higher in patients than in controls (p<0.001). CONCLUSIONS: Nail abnormalities were more prevalent in vitiligo patients than in controls. Systematic examination of the nails in such patients is useful because nail abnormalities are frequent. However, the causes of such abnormalities require further study. Longitudinal ridging and leukonychia were the most common abnormalities observed in this study.

Nail abnormalities in patients with vitiligo

Abstract: Background: Vitiligo is an acquired pigmentary skin disorder affecting 0.1-4% of the general population. The nails may be affected in patients with an autoimmune disease such as psoriasis, and in those with alopecia areata. It has been suggested that nail abnormalities should be apparent in vitiligo patients. Objective: We sought to document the frequency and clinical presentation of nail abnormalities in vitiligo patients compared to healthy volunteers. We also examined the correlations between nail abnormalities and various clinical parameters. Methods: This study included 100 vitiligo patients and 100 healthy subjects. Full medical histories were collected from the subjects, who underwent thorough general and nail examinations. All nail changes were noted. In the event of clinical suspicion of a fungal infection, additional mycological investigations were performed. Results: Nail abnormalities were more prevalent in the patients (78%) than in the controls (55%) (p=0.001). Longitudinal ridging was the most common finding (42%), followed by (in descending order): leukonychia, an absent lunula, onycholysis, nail bed pallor, onychomycosis, splinter hemorrhage and nail plate thinning. The frequency of longitudinal ridging was significantly higher in patients than in controls (p<0.001). Conclusions: Nail abnormalities were more prevalent in vitiligo patients than in controls. Systematic examination of the nails in such patients is useful because nail abnormalities are frequent. However, the causes of such abnormalities require further study. Longitudinal ridging and leukonychia were the most common abnormalities observed in this study.

Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias.

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare form of autosomal dominant ectodermal dysplasia due to mutations in the TP63 gene, a locus that has also been implicated in other syndromic forms of ectodermal dysplasia. It shares many phenotypic characteristics with other TP63 gene mutation syndromes, often making an accurate diagnosis difficult. Long-term management and follow-up of the various sequelae of ectodermal dysplasia require an accurate diagnosis. We report a familial case of ADULT syndrome in a daughter, mother, and son and provide a brief review of the clinical characteristics of this syndrome.

Epidemiological study of onychomycosis in older adults with onychodystrophy.

AIM: To identify the prevalence of onychomycosis and epidemiological features in older adults (>65%) with toenail onychodystrophy. In particular, the aim of the study was to analyze risk factors/protective factors, clinical manifestations, comorbidities and etiological agents. METHODS: A prospective study was carried out from February 2012 to May 2012 at San Martino-IST of Genoa, Italy. The inclusion criteria for enrolment were the presence of onychodystrophy of one or more toenails and age >65 years. The exclusion criteria were systemic/topical antifungal treatments in the previous 6 months, drilling of the nail plate in the previous 6 months and a specialist's diagnosis or suspicion of onychomycosis. A database was created for the patients' anamnesis, the clinics and testing results. Several statistical analyses were carried out. RESULTS: A total of 100 patients fulfilled the inclusion criteria. A total of 35 cases had positive results, and the etiological agent was isolable in 14 cases. The most represented was Trichophyton mentagrophytes followed by Trichophyton rubrum and others. Multivariate logistic regression analysis showed the significant roles of sex and diabetes as risk factors, and the use of statins as a protective factor. CONCLUSIONS: Onychomycosis has a high prevalence in older adults with onychodystrophy. It is important not to overlook onychodystrophy, and to carry out laboratory testing to exclude a fungal infection. In fact, as older patients often cannot undergo systemic antifungal therapies, it is fundamental to treat them early and avoid the spread of infection.

Food allergy in childhood (infancy to school age).

Food allergy is a potentially life-threatening condition affecting almost 10% of children, with an increasing incidence in the last few decades. It is defined as an immune reaction to food, and its pathogenesis may be IgE mediated, mixed IgE and non-IgE mediated, or non-IgE mediated. Potentially all foods can cause food allergy, but a minority of foods are responsible for the vast majority of reactions reported. A good clinical history is crucial for an accurate diagnosis. Allergy tests, including the skin prick test and measurement of specific IgE antibodies, are useful tools in the case of IgE-mediated or mixed allergy but have not been shown to be of any help in delayed allergic reactions to foods.

Onychomadesis after hand-foot-and-mouth disease outbreak in northern Greece: case series and brief review of the literature.

BACKGROUND: Nail abnormalities in childhood are generally uncommon. Recently, onychomadesis was described as a late complication of hand-foot-and-mouth disease (HFMD). Onychomadesis outbreaks following HFMD have been reported in many countries worldwide. AIM: To present a case series of onychomadesis in children, following HFMD outbreak in Northern Greece, and review literature data. METHODS: Children with evident onychomadesis attending the outpatient clinic between November 2012 and January 2013 were included in the study. A questionnaire including demographic personal and family history information of the children was completed by the parents. Patients were clinically examined, and their pediatric and dermatological records were studied to confirm precedent HFMD. Direct microscopic examination and cultures for fungi were performed. Exposure of participants to coxsackievirus, based on serology testing during infection, was also recorded. RESULTS: Sixty-eight children with onychomadesis were included. The mean number of affected nails was 8.82. Fingernails were more often involved. Previous clinical diagnosis of HFMD was confirmed in 67/68 cases. The mean time from HFMD diagnosis to onychomadesis development was 39.6 days (range: 28-56 days, STD: 7.33). Direct microscopic examination, as well as cultures for fungal species, was negative for the whole sample size. All the nail changes were transient with spontaneous regrowth after 1-4 months. CONCLUSION: Our data indicate that onychomadesis outbreak in the region of Thessaloniki during fall-winter 2012-13 was highly related to the outbreak of HFMD. Our study reinforces existing evidence for the association between onychomadesis and HFMD.

Onychomycosis in patients with chronic leg ulcer and toenail abnormalities.

Nails have a limited number of reactive patterns to disease. Accordingly, toenail changes of different etiologies may mimic onychomycosis. OBJECTIVE To determine the prevalence of toenail onychomycosis among patients with leg ulcer and toenail abnormalities attending a dermatology clinic. METHODS A cross-sectional study was conducted through the analysis of clinical records and results of mycological examination. RESULTS A total of 81 patients were included, with a median age of 76.0 years. Most ulcers were of venous etiology, followed by those of mixed and arterial pathogenesis. The mycological evaluation confirmed the diagnosis of onychomycosis in 27.2% of the patients. The etiologic agent was a dermatophyte in 59.1% of isolates in nail samples, while Trichophyton interdigitale was the most frequent fungal species (40.9%). CONCLUSIONS Most toenail abnormalities in patients with chronic leg ulcer were not onychomycosis. This study highlights the importance of systematic mycological examination in these patients, in order to avoid overtreatment with systemic antifungals, unnecessary costs and side effects.

Clinical study of nail changes in vitiligo.

Both vitiligo and alopecia areata (AA) are associated together, associated with other autoimmune diseases, and autoimmunity is one of the important theories in their etiology. Nail changes are a known association with AA, thus we hypothesized that nail changes can be found in vitiligo patients. On revising the literature, only two types of nail changes were described in association with vitiligo. Our aim was to study the frequency and types of nail changes among vitiligo patients in comparison with normal healthy volunteers. This multi-centric study was carried on 91 patients with vitiligo, as well as 91 normal healthy control subjects who were age- and sex-matched. Nails were examined for changes in nail plates as regards striations, texture, curvature, dystrophy, and pigmentation. The presence or absence of the thumb lunula was also reported. Nail changes were observed in 62 patients (68.1%) and 46 (50.5%) control subjects with a statistically significant difference (P = 0.016). Longitudinal ridging and absent lunula were significantly higher in patients than in the controls (P = 0.001 and 0.037, respectively). Other reported nail abnormalities in the current study included punctate leukonychia, pitting, flag sign, and Terry's nails. Awareness of this association will widen the clinician's perspective to carefully examine the nail changes in vitiligo patients and conversely examine patients with nail changes for vitiligo.

Prevalence of xerosis, eczema, and hair and nail abnormalities in PLWHA in Cotonou, Benin.

BACKGROUND: The objective of this investigation was to study the prevalence of xerosis, eczema, and hair and nail abnormalities in PLWHA in Cotonou. PATIENTS AND METHODS: A retrospective study was performed on the records of PLWHA in Cotonou. All PLWHA with xerosis, eczema, or abnormal appendages were included. RESULTS: Forty-seven patients had xerosis or eczema. Their mean age was 38 years; the sex ratio 0.51 and the mean CD4 count 89 cells/mm(3). Twenty-three patients had xerosis, which affected the whole body (n = 20), lower limb (n = 2), limbs and trunk (n = 1), without gender difference. Twenty-four patients had eczema of which eight had both eczema and xerosis. Forty-two patients had abnormalities of the hair or nails. Their sex ratio was 0.80 and the mean CD4 count 110 cells/mm(3) . Nineteen patients had abnormalities of the hair and scalp: straight hair (n = 16), squamous lesions (n = 2), and folliculitis abscess (n = 1) with a male predominance. Twenty-three patients had nail dermatophytosis (n = 15), candidiasis (n = 7), and ingrowing nails (n = 1). These conditions affected more often women (74%) than men (26%). CONCLUSION: The prevalence of eczema and xerosis is low in our patients. Onychomycosis was the most frequent nail abnormality.