Normal Nails Research Articles

Ultrasound Assessment of Psoriatic Arthritis Patients With Clinically Normal Nails and Evaluation of its Correlation With the Disease Activity: A Case-Control Study.

Nail unit is one of the targets of ultrasound (US) assessment. We aimed to compare ultrasound parameters of clinically normal nail unit in psoriatic arthritis (PsA) patients with healthy controls (HC) and evaluate their correlations with disease activity. This was a cross-sectional study including patients with PsA and matched HC. Tender (TJC) and swollen joint count (SJC), Psoriasis Area and Severity Index (PASI), and Disease Activity in Psoriatic Arthritis (DAPSA) were collected in PsA patients. Patients underwent US assessment of fingernails with a study of morphological changes and measurement of the thickness of nail bed (NBT), nail plate (NPT), and adjacent skin (ST). Correlation between nail unit parameters and disease activity was studied. We evaluated 22 PsA patients (219 nails) and 21 HC (210 nails). Mean DAPSA was 21.56 ± 14.36 and mean PASI was 2.19 ± 3.8. PsA patients had more US morphological changes than HC (16.89 vs 3.33%, P = .03). NPT comparison between identical fingernails of PsA and HC did not reveal significant difference. However, NBT was significantly higher in HC (1.77 vs 2.07 mm, P = .027) as well as ST (2.26 vs 2.59 mm, P = .003). TJC and ST were positively correlated (r = .46, P = .03). No correlation was noted between disease activity scores and NPT, NBT, or ST in PsA patients. In biologic parameters, ESR was negatively correlated with ST (r = -.41, P = .05). Nail bed and adjacent skin US morphological changes were contributive to distinguish psoriatic from healthy nails. Adjacent skin thicknessmeasurement was positively correlated with TJC and ESR, suggesting that it could be used as an indicator of disease activity in PsA.

Ultrasonographic and power doppler parameters of nails fail to differentiate between onychodystrophy in patients with psoriasis vulgaris or psoriatic arthritis

BackgroundNail involvement is frequent in patients with psoriasis (Pso) and psoriatic arthritis (PsA) and there is a relationship between nail involvement and inflammation of the enthesis. The main objective of the present study is to describe the ultrasound findings and clinical characteristics of nails from patients with psoriasis and psoriatic arthritis with and without nail dystrophy.MethodsA cross-sectional study including consecutive patients with PsO and PsA was carried out. The study patients were divided into 4 groups, totaling 120 participants. Group 1: patients with psoriasis vulgaris and clinically normal nails; Group 2: patients with psoriasis vulgaris and onychodystrophy; Group 3: patients with psoriatic arthritis and clinically normal nails; Group 4: patients with psoriatic arthritis and onychodystrophy; All patients were submitted to dermatological and rheumatological clinical analysis. Ultrasound examinations was performed by a single examiner, blinded to all clinical data, with ultrasound high resolution, in B-mode or gray-scale (GS), Power Doppler (PD) and Spectral Doppler.ResultsA significant difference was found between the groups regarding the variable Psoriasis Area and Severity Index (PASI) (p = 0.008) and body surface area (BSA) (p = 0.005), with patients with psoriatic arthritis having lower PASI and BSA compared to patients with only cutaneous psoriasis. A positive relationship was found with the average ultrasound thickness of the nail bed and the Nail Psoriasis Severity Index (NAPSI) in correlation analysis (rho = 0.344). When we grouped patients with psoriasis and psoriatic arthritis, there was no significant difference between the cutaneous psoriasis groups and the psoriatic arthritis groups in terms of nail plate GS (p = 0.442), nail bed PD (p = 0.124).ConclusionGreater nail bed thickness indicates early psoriatic nail disease, as confirmed in our study correlating NAPSI with nail bed thickness. Ultrasonography is a low-cost exam, promising in the evaluation, showing that the ultrasound grayscale is consistent with those who have dystrophic nails, but it can’t distinguish psoriasis from psoriatic arthritis, even in those with nail dystrophy.

Computer Aided Disease Detection using Finger Nail Image Processing Technique

Human analysis is a method that can identify various diseases by examining different parts of the body. One of these is the fingernail, as it is the last organ in the body that receives oxygen. Because of this, it can sometimes exhibit early signs of a disease. More accurate findings may be produced by using digital image processing techniques to examine changes in human nails, making it possible to anticipate many illnesses with simplicity. The main focus of this study is on the role that nail colors, textures, forms, and flexibility play in illness prediction. Due to the limitations of human vision in differentiating minor colour changes, clinicians must rely on visual inspections of patients' nails in traditional illness detection procedures, which can be laborious and less reliable. Nail characteristics are detected using image analysis and digital image processing techniques include image capture, pre-processing, segmentation, and feature extraction. Normal healthy nails are glossy, pink, and smooth. However, this study examines multiple approaches used to analyse nail photos and find disorders. The objective is to advance beyond conventional observation-based methodologies and improve the precision and effectiveness of illness prediction.

O02 A case for diagnosis: ectodermal dysplasia and severe myelodysplasia

Abstract A 13-year-old girl was referred to us by our paediatric colleagues due to vulval dermatitis. She had a history of congenital hypotrichosis, microcephaly, abnormal dentition, dyshidrosis manifest as recurrent febrile seizures in infancy, recurrent infections, neutropaenia and macrocytosis. Her father and younger brother have a similarly striking phenotype, with complete absence of scalp and body hair, abnormal teeth, abnormal sweating, but normal nails. In addition, the father has required a stem cell transplant for myelodysplastic syndrome. None of the family have keratoderma, cleft palate, ectrodactyly or cardiomyopathy. DNA from our index patient was sent to Cardiff for the ectodermal dysplasia (ED) plus 70 gene panel for next-generation sequencing, but no mutation was found. Our paediatric haematology colleagues sequentially arranged dyskeratosis congenita panel, myeloid panel, and whole-exome sequencing for the younger brother, which did not identify a causative mutation. Unusually, all three were found to have mosaic trisomy 18. The transmission of trisomy 18 from parent to child as a mosaic trait in both generations is extremely unusual, and mosaic trisomy 18 has not been previously reported to cause ED. We would appreciate any input on a genetic diagnosis for this family with a distinctive phenotype consistent with hypohidrotic ED associated with myelodysplasia, with extensive genetic testing revealing a potentially spurious or coincidental mosaic trisomy 18 in all three affected family members.

A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism.

Ectodermal dysplasia (ED), which exhibits a wide range of clinical symptoms, may be classified into three major types: hypohidrotic, anhidrotic, and hidrotic. A male child (proband) showing anhidrotic dysplasia was used as the subject of this study. The biopsy of the big toe revealed that the male child had no sweat glands. Genetic analysis of the patient revealed a mutation caused by a homozygous nucleotide substitution in the EDAR-associated death domain (EDARADD) (rs114632254) gene c.439G>A (p.Gly147Arg). Phenotypically, his teeth were sharp, but eight teeth were missing (oligodontia). The patient had normal nails with dry skin, sparse hair, everted lower lip vermilion, hyperpigmented eyelids, and abnormal nasal bridge morphology around the eyes. There is also a homozygous dominant (healthy) female and a heterozygous male in this family, who are cousins (aunt children) to the heterozygous parents. The daughter of the patient was also heterozygous. This mutation represents homozygous recessive inheritance, which we describe for the first time. Furthermore, we demonstrated that this genetic disorder can be readily diagnosed using the restriction fragment length polymorphism (RFLP) method after digestion with MnII restriction endonuclease.

BG11 Palmoplantar keratoderma with mutations in filaggrin and desmoglein-1 genes

Abstract Hereditary palmoplantar keratoderma (PPK) has many forms, and genetic testing can help distinguish diagnoses. This case demonstrates a presentation of PPK with an altered phenotype caused by a mutation in FLG. The patient was a 23-year-old woman referred with PPK since the age of 6 years. She reported dry skin on the back of her hands from infancy and no other dermatological conditions. She denied plantar pain except when there were fissures in the callus. There was no relevant past medical history, but a significant family history of individuals with PPK and curly hair, and sudden infant death (SID) in two siblings. Physical examination revealed focal plantar keratoderma bilaterally, curly hair, mild tongue leukokeratosis and generally dry skin on both legs. She had palmar hyperlinearity, small calluses on the palms and normal nails. She declined a skin biopsy. The patient was referred to cardiology to rule out cardiomyopathy associated with a desmoplakin variant. She had an unremarkable transthoracic echocardiography and cardiac magnetic resonance imaging. Twelve-lead electrocardiography showed sinus rhythm with biphasic T-wave in V2 and inverted V1. Clinically arrhythmogenic right ventricular cardiomyopathy (ARVC) was ruled out; however, given her significant family history of SID and PPK, panel testing for genes associated with ARVC was performed, which revealed a heterozygous variant of uncertain significance in MYBPC3 (p.Val639lle). This variant did not explain the patient’s PPK; therefore, a PPK panel was performed. Next-generation sequencing identified a heterozygous DSG1 [c430A>T p.(Arg.144*)] pathogenic variant and a heterozygous FLG [c2282_2285del p.(Ser761Cysfs*36)] pathogenic variant. The patient’s PPK was more severe on the plantar surface of the feet than one might expect with a DSG1 variant. This case demonstrates the interaction between two genetic variants known to be associated with skin conditions. Ichthyosis vulgaris is caused by FLG variants. Patients with heterozygous FLG variants are less severely affected and have reduced penetrance compared to homozygotes. Meanwhile, heterozygous pathogenic variants in DSG1 are associated with keratosis palmoplantaris striata I (MIM148700). We hypothesize that the coexistence of FLG and DSG1 variants may contribute to a more extensive keratoderma phenotype than usually seen with DSG1 variants. This case contributes to our understanding of PPK, demonstrates the value of genetic testing in dermatological conditions and describes a unique phenotype in the presence of multiple genetic variants. Further research is required to better understand the interaction between variants in PPK pathogenesis.

Characterization of recessively inherited X-Linked ichthyosis in Bajaur Agency

Background: Recessively inherited X-linked Ichthyosis (XLI) is the second most generic form of Ichthyosis and is characterized by scaly, dry, thickened, and mild erupted skin. It is caused by a mutation in the STS gene ensuing lower production of Steroid sulfatase. A current study was performed to characterize XLI and its complications in patients of Bajaur Agency, Pakistan. We also wanted to record critical factors affecting the progression of XLI. Methods: An Ichthyosis examination questionnaire was prepared and detailed information about the symptoms and management was recorded from 51 affected male patients of 17 families. Personal data such as age and gender were also recorded. Results: Our results indicate that 53% of the patients were collodion while other symptoms appeared in the first month after birth. Almost every part of the patient has symptoms of the disease; scales were found on the extensor and flexor muscles (98%) of limbs followed by the ears (82.53%). All the patients had normal nails, palms and soles. Conclusion: The age of the patients seems to have a significant effect on the color of the scales changing from white to brown to blackish. The disease progresses with the age and worsens in cold, dry seasons. The pedigrees of all families show that disease passes from generation to generation according to the classical X-linked recessive inheritance. We recommend early diagnosis and treatment for effective management of the condition. Further work is required to elucidate the genetic, biochemical, and environmental factors involved in the disease.

Dermoscopy of subclinical nail involvement in patients with diabetes mellitus: a case-control study.

Diabetes mellitus (DM) is a chronic disease characterized by elevated blood glucose levels that can lead to serious complications. Nails are a mirror for general health so changes in nails can be an indicator of disease progression in patients with DM. To detect subclinical nail changes in patients with DM using dermoscopy. In total, 100 participants were recruited, all of them from outpatient clinics, made up of a group with DM (n = 50) and an age- and sex-matched control group without DM (n = 50). All patients had clinically apparently normal nails. In both groups, dermoscopic examinations were conducted and compared. It was found that 33 patients in the DM group (66%) had dermoscopic nail findings in the form of microhaemorrhage (26%), longitudinal striations (24%), distal subungual onychomycosis (24%), superficial pitting (20%), distal onycholysis (18%), splinter haemorrhage (14%), subungual hyperkeratosis (12%), dilated vessels (10%) and distal yellowish discoloration (8%). Nail examination can be accomplished with the help of dermoscopy to detect subclinical nail changes in patients diagnosed with DM and, therefore, can give us an idea about disease progression and help with control of DM and treatment plans.

Metagenomics of Toenail Onychomycosis in Three Victorian Regions of Australia.

Onychomycosis is a fungal disease of the nail that is found worldwide and is difficult to diagnose accurately. This study used metagenomics to investigate the microbiology of 18 clinically diagnosed mycotic nails and two normal nails for fungi and bacteria using the ITS2 and 16S loci. Four mycotic nails were from Bass Coast, six from Melbourne Metropolitan and eight from Shepparton, Victoria, Australia. The mycotic nails were photographed and metagenomically analysed. The ITS2 sequences for T. rubrum and T. interdigitale/mentagrophytes averaged over 90% of hits in 14/18 nails. The high abundance of sequences of a single dermatophyte, compared to all other fungi in a single nail, made it the most likely infecting agents (MLIA). Trichophyton rubrum and T. interdigitale/mentagrophytes were found in Bass Coast and Shepparton while only T. interdigitale/mentagrophytes was found in Melbourne. Two nails with T. interdigitale/mentagrophytes mixed with high abundance non-dermatophyte moulds (NDMs) (Aspergillus versicolor, Acremonium sclerotigenum) were also observed. The two control nails contained chiefly Fusarium oxysporum and Malassezia slooffiae. For bacteria, Staphylococcus epidermidis was in every nail and was the most abundant, including the control nails, with an overall mean rate of 66.01%. Rothia koreensis, Corynebacterium tuberculostearicum, and Brevibacterium sediminis also featured.

Deep convolutional neural networks for onychomycosis detection using microscopic images with KOH examination.

The diagnosis of superficial fungal infections is still mostly based on direct microscopic examination with potassium hydroxide solution. However, this method can be time consuming, and its diagnostic accuracy rates vary widely depending on the clinician's experience. This study presents a deep neural network structure that enables the rapid solutions for these problems and can perform automatic fungi detection in grayscale images without dyes. One hundred sixty microscopic full field photographs containing the fungal element, obtained from patients with onychomycosis, and 297 microscopic full field photographs containing dissolved keratin obtained from normal nails were collected. Smaller patches containing fungi (n=1835) and keratin (n=5238) were extracted from these full field images. In order to detect fungus and keratin, VGG16 and InceptionV3 models were developed by the use of these patches. The diagnostic performance of models was compared with 16 dermatologists by using 200 test patches. For the VGG16 model, the InceptionV3 model and 16 dermatologists, mean accuracy rates were 88.10 ± 0.8%, 88.78 ± 0.35% and 74.53 ± 8.57%, respectively; mean sensitivity rates were 75.04 ± 2.73%, 74.93 ± 4.52% and 74.81 ± 19.51%, respectively; and mean specificity rates were 92.67 ± 1.17%, 93.78 ± 1.74% and 74.25 ± 18.03%, respectively. The models were statistically superior to dermatologists according to rates of accuracy and specificity but not to sensitivity (p < .0001, p < .005 and p > .05, respectively). Area under curve values of the VGG16 and InceptionV3 models were 0.9339 and 0.9292, respectively. Our research demonstrates that it is possible to build an automated system capable of detecting fungi present in microscopic images employing the proposed deep learning models. It has great potential for fungal detection applications based on AI.

Nail Care for Healthcare Workers during COVID-19 Pandemic.

Nail Care for Healthcare Workers during COVID-19 Pandemic.

A mycological study of clinically normal nails and waistbands and their role as sources of infection in patients with tinea corporis

&lt;p class="abstract"&gt;&lt;strong&gt;Background:&lt;/strong&gt; Dermatophytosis is a superficial fungal infection of keratinized tissue caused by keratophilic fungi- dermatophytes. Inanimate objects and infected nails favour the spread of infection. Purpose of this study was to identify the role of waist bands and uninvolved nails as sources of infection in patients with tinea corporis.&lt;/p&gt;&lt;p class="abstract"&gt;&lt;strong&gt;Methods:&lt;/strong&gt; A study was carried out on 50 patients with tinea corporis during the period of December 2010 to June 2012 at Tertiary Care Centre at Pondicherry. Nail clippings, waist band cuttings and scrapings were subjected to direct microscopy with 10% KOH and culture.&lt;strong&gt;&lt;/strong&gt;&lt;/p&gt;&lt;p class="abstract"&gt;&lt;strong&gt;Results:&lt;/strong&gt; Laboratory analysis showed positive culture in 18% of patients, of which dermatophytes were isolated from all three samples in 12% of patients, while in 6% of the patients growth was seen only in the skin scrapings and waist bands.&lt;/p&gt;&lt;p class="abstract"&gt;&lt;strong&gt;Conclusions:&lt;/strong&gt; Waist bands and uninvolved nails harbour dermatophytes and play an active role in the spread and recurrence of infection.&lt;/p&gt;

Nail clipping in onychomycosis and comparison with normal nails and ungual psoriasis

BackgroundOf all nail disorders seen in dermatology offices, half of them are due to onychomycosis. The main differential diagnosis is nail psoriasis. The objective of this study was to compare the microscopic findings, other than the presence of fungi, in the clipping of onychomycosis versus normal nails and nail psoriasis.MethodsCross-sectional study of onychomycosis cases, analyzed by clipping and compared with data on normal nails and those with nail psoriasis.ResultsSixty-two onychomycosis samples were compared with 30 normal nails and 50 nails with psoriasis. In onychomycosis, measurement of subungual region, serous lakes, neutrophils and number of layers of parakeratosis are more intense than in psoriasis. Onychocariosis is less common in psoriasis, while bacteria are more frequent. The nail transition zone is more commonly blurred and irregular in onychomycosis.ConclusionClipping helps in the differential diagnosis of onychomycosis and nail psoriasis and may be useful even when fungi are not found.

Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.

The specific association of Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (LCA-like) with sensorineural hearing loss (SHL) is uncommon. Recently, we ascribed some of these distinctive associations to dominant and de novo mutations in the β-tubulin 4B isotype-encoding gene (TUBB4B), providing a link between a sensorineural disease and anomalies in microtubules behavior. Here, we report 12 sporadic cases with LCA/SHL or LCA-like/SHL and no TUBB4B mutation. Trio-based whole exome sequencing (WES) identified disease-causing mutations in 5/12 cases. Four out of five carried biallelic mutations in PEX1 (1/4) or PEX6 (3/4), involved in peroxisome biogenesis disorders from Zellweger syndrome characterized by severe neurologic and neurosensory dysfunctions, craniofacial abnormalities, and liver dysfunction to Heimler syndrome associating SHL, enamel hypoplasia of the secondary dentition, nail abnormalities, and occasional retinal disease. Upon reexamination, the index case carrying PEX1 mutations, a 4-year-old girl, presented additional symptoms consistent with Zellweger syndrome. Reexamination of individuals with PEX6 mutations (1/3 unavailable) revealed normal nails but enamel hypoplasia affecting one primary teeth in a 4-year-old girl and severe enamel hypoplasia of primary teeth hidden by dental prosthesis in a 50-year-old male, describing a novel PEX6-associated disease of the Zellweger/Heimler spectrum. Finally, hemizygosity for a CACNA1F mutation was identified in an 18-year-old male addressed for LCA/SHL, redirecting the retinal diagnosis to congenital stationary night blindness (CSNB2A). Consistent with the pure CSNB2A retinal involvement, SHL was ascribed to biallelic mutations in another gene, STRC, involved in nonprogressive DFNB16 deafness.

Assessment of nail unit structures by ultrasound in patients with psoriatic arthritis and their correlations with disease activity indices: a case-control study.

Ultrasound (USG) of nail was performed to assess, (1) morphological alterations of nail plates in psoriatic arthritis (PsA) patients, (2) differences of nail unit parameters [nail bed thickness (NBT), nail matrix thickness (NMT) and nail plate distance (NPD)] in PsA patients from healthy controls (3) correlation of nail unit parameters with PsA disease activity indices. Total of 895 fingernails (448 nails of 45 PsA patients and 447 of 45 controls) were evaluated by USG. Psoriasis Area and Severity Index (PASI), Disease Activity in Psoriatic Arthritis (DAPSA), and Nail Psoriasis Severity Index (NAPSI) were calculated in PsA patients. Nail unit parameters were compared between two study groups. Correlation study was done between nail unit parameters and disease activity indices. All PsA patients showed ultrasound evidence of nail plate changes (87.95% of the total fingernails and 75.34% of the clinically normal nails). Loosening of the ventral nail plate border was most common (51.79%). Mean NBT (PsA: 0.19 ± 0.035cm, control: 0.17 ± 0.018cm, p = 0.003) and mean NMT (PsA: 0.32 ± 0.041cm, control: 0.28 ± 0.031cm, p = < 0.0001) were significantly increased in the PsA patients. Moderately positive correlation was observed between NAPSI score and mean NMT (Spearman r = 0.411, 95% confidence interval: 0.125-0.634, p = 0.005). USG evidence of nail plate alterations was frequent among PsA patients, even in clinically normal nails. Increased mean nail bed and matrix thickness were noted in PsA patients. Mean NMT had a moderately positive correlation with NAPSI score.

Risk Factors and Frequency of Ingrown Nails in Adult Diabetic Patients

The present study evaluated the properties of nails, frequency of ingrown nails in patients with type 2 diabetes mellitus (DM), risk factors for developing ingrown nails, and effect of diabetic polyneuropathy and vasculopathy on the development and outcome of ingrown nails. Our 6-month epidemiologic prospective study included 300 patients with type 2 DM attending a DM outpatient clinic for routine examinations. The general characteristics and foot changes of the study population were investigated. Diabetic polyneuropathy and vasculopathy were evaluated using a biothesiometer, monofilament tests, and arterial Doppler ultrasonography. The frequency of ingrown nails was 13.6%. Multivariate analysis with logistic regression showed that body mass index (odds ratio [OR] 1.077, 95% confidence interval [CI] 1.007 to 1.15; p = .03), previous trauma (OR 2.828, 95% CI 1.017 to 7,867, p = .042), a weak dorsalis pedis pulse (OR 2.72, 95% CI 1.17 to 6.30, p = .02), trimming type (OR 2.3, 95 CI 1.06 to 4.98), p = .35), onychogryphosis (OR 9.036, 95% CI 2.34 to 34.87, p = .001), and subungual hyperkeratosis (OR 4.3, 95% CI 1.99 to 9.3, p = .001) were predictive variables for ingrown nails in our population. The incidence of onychomycosis was significantly greater in patients with ingrown nails (p = .032) than in patients without ingrown nails. The nail curvature ratio was greater in the patients with ingrown nails than in the group with normal nails. Arterial Doppler ultrasound examinations showed peripheral arterial disease in 19 patients (46.9%) with ingrown nails. The prevalence of ingrown nails was greater in the patients with DM than in the healthy population. Our results indicate that nail type, nail morphology, and diabetic vasculopathy affect the formation and evolution of ingrown nails.

The prevalence and etiological factors of onychomycosis in psoriatic patients.

IntroductionThe role of a number of inherited, acquired and environmental factors has been identified to increase the risk of onychomycosis. The literature data on psoriasis as a risk factor are contradictory. The potential relationship between these pathologies is very important as it influences the patient management.AimTo evaluate the frequency of onychomycosis and etiological factors in patients with psoriasis compared to controls.Material and methodsThe studied group (n = 2427) included 2325 patients with nail abnormalities raising a clinical suspicion of nail onychomycosis (with no history of psoriasis) and 102 psoriatic inpatients. The control group included 100 patients with clinically normal nails. The assessment of psoriasis severity using Nail Psoriasis Severity Index (NAPSI) and Psoriasis Area and Severity Index (PASI) was performed in all psoriatic patients. The presence of fungi was confirmed in direct microscopy and culture.ResultsA significantly higher incidence of onychomycosis was observed in psoriatic patients as well as in non-psoriatic patients with clinically abnormal nails compared to controls. The prevalence of onychomycosis did not differ significantly between psoriatic patients and non-psoriatic patients with nail alterations. The characteristics of isolated fungi differed significantly between psoriatic and non-psoriatic patients. NAPSI ≥ 40 and receiving systemic treatment increased the risk of onychomycosis in psoriatic patients.ConclusionsThe presented study showed a relatively high prevalence of onychomycosis in patients with psoriasis, what confirms the accuracy of performing screening mycological examination in this group. Further studies are warranted to evaluate the role of specific risk factors, explain the differences observed in previous studies and to determine optimal patient management.

Ultrasonographic Criteria for Diagnosing Unilateral and Bilateral Retronychia.

To assess the main characteristics of retronychia on ultrasonography (US) and to propose US criteria for diagnosing unilateral and bilateral cases according to the digit. We conducted a case-control study with retrospective, descriptive, and statistical analyses of the US images of 210 nails: 43 with retronychia and 167 normal nails. The Student t test, Fisher exact test, and Kruskal-Wallis test, among other tests, were performed. P < .05 was considered significant. Seventy percent of the patients were females, and the most affected digit was the big toe. Significant US diagnostic criteria were as follows: criterion 1, hypoechoic halo surrounding the origin of the nail plate; criterion 2, distance between the origin of the nail plate and the base of the distal phalanx of 5.1 mm or less in big toes and thumbs and/or a difference of 0.5 mm of this distance or greater between the affected nail and the contralateral healthy nail; and criterion 3, proximal nail fold thickness of 2.2 mm or greater for male patients or 1.9 mm or greater for female patients and/or a proximal nail fold 0.3 mm thicker or greater in comparison with the contralateral healthy nail. Cutoff points, sensitivity, and specificity with a 95% confidence interval were defined for each criterion according to the digit in cases with unilateral and bilateral involvement. Ultrasonography can support the diagnosis of retronychia in unilateral and bilateral cases.

A recurrent missense mutation in the LPAR6 gene underlies hereditary hypotrichosis

Hypotrichosis is a heritable condition described by sparse hairs, sparse to absent eyebrows, eyelashes, axillary, and body hair, but with normal teeth and nails. Genotyping was carried out of family from fourth generation from district Sibi, Balochistan, having two affected males and one female. Genotyping was done targeting LPAR6-linked microsatellite markers present on chromosome 13q14.11-q21.32. The exon located on LPAR6 gene, were amplified of both affected and normal individuals of the family revealing linkage at locus on chromosome 13. Sequencing result of the LPAR6, shown a recurrent missense mutation c.436G>A, p. G146R) in a family. A recurrent missense mutation revealed in the current investigation encompass the evidence of LPAR6 gene hereditary hypotrichosis. Keywords: Hereditary hypotrichosis; LPAR6 gene; Missense mutation http://dx.doi.org/10.19045/bspab.2017.60072

Analysing Human Nails Composition by Using Laser Induced Breakdown Spectroscopy

This study investigated the elemental composition of pathological and normal nails, according to different age groups and genders. The nail elemental composition was analyzed by using Laser Induced Breakdown Spectroscopy (LIBS) technique. A Q-switched Nd:YAG laser at 1064 nm with output energy of 100 mJ, pulse duration of 6 ns and repetition rate of 1 Hz was fired to the human nails sample. The laser pulse ablated the target sample surface and produced plasma plume with characteristic spectral line comprising sample's elemental composition. The plasma emission spectrum of nail samples were captured by fibre optic detection device and spectrometer equipped with ASEQ Spectra Software for elemental analysis. The elements detected in nails were Mg, Al, Ca, P, Ti, K and Na. Classification of nails into different age groups and genders demonstrate efficient results if compared with Dietary Reference Intakes (DRI). The results indicate that Ca, Al, Ti, P and K composition were higher among female. However, Mg and Na were higher among male. The results also show that Ca and K element decline as the age increase in both genders. The pathological nails' elemental compositions were also noticeably related to the nail disorder condition itself. It is proven that LIBS could be a possible method for analyzing the nails and identification of various nail disorders.