Considerations in the diagnosis and treatment of several nail diseases / 中华皮肤科杂志

In recent years, some progress has been made in the diagnosis and treatment of nail diseases, but there are still many challenges, such as longitudinal melanonychia, rare nail unit-specific tumors and nail dystrophy. Longitudinal melanonychia may develop into melanoma. Besides, biopsy and surgery are triggering factors for acral melanoma, so it is important to decide whether to operate and how to apply operating principles in clinic. In addition, the diagnosis and treatment should be based on patients′ age, clinical evaluation results, dermoscopic findings and pathological examinations, so as to avoid missed diagnosis of malignant melanonychia and deformities from treatment of benign melanonychia as far as possible. There are few summaries of clinical manifestations and pathological features of rare nail unit-specific tumors, and their diagnosis is difficult. In particular, onychocytic carcinoma and onycholemmal carcinoma are malignant tumors with great harm, so this article focuses on the two kinds of tumors to remind clinicians to avoid missed diagnoses. The etiology of nail dystrophy is complex. Nail dystrophy caused by inflammatory diseases can be treated with topical or systemic drugs, while various nail deformities caused by genetic factors, toe deformities, improper walking posture, mechanical injuries, and chronic inflammation of the nail groove are in need of physical or surgical correction. This article gives insight into challenges and strategies for the diagnosis and treatment of the above nail diseases.

Habit tic nail dystrophy: a case report affecting single thumb nail

Habit-tic deformity is a classic example of overlap between the domains of dermatology and psychiatry.  Mostly seen in adults, it results from the habit of picking or pushing the cuticle backward. A case of habit-tic deformity of a single thumb nail is reported and the simple treatment measure adopted discussed.

A case of twenty nail dystrophy affecting a 12 year old boy

Nail diseases in children may be congenital or acquired and occurs in 3 to 11% of pediatric population. Twenty nail dystrophy is a nail disorder with a classical presentation, often affecting all twenty nails. It is an idiopathic disorder in childhood but can be associated with other diseases such as lichen planus, alopecia areata, psoriasis, eczema, IgA deficiency, atopic dermatitis, ichthyosis vulgaris and vitiligo. Twenty nail dystrophy is otherwise called trachyonychia. Typically, the condition is bilateral and symmetrical affecting all the nails of hands and feet. It is cosmetically disfiguring and can be source of anxiety for children and parents, which can impact further the quality of life. Twenty nail dystrophy is of two types, based on the clinical presentation namely opaque or shiny trachyonychia. Since this nail disorder is associated with a number of dermatologic diseases, children require long term follow up. We report a case of a 12-year-old boy with a three-year history of twenty nail dystrophy with no relevant family history of skin or nail diseases. The child had isolated nail manifestation without any other dermatologic condition. Twenty nail dystrophy is a self-limiting disease, which is treated conservatively. The aim of this report is to highlight importance of a thorough physical examination to diagnose nail disorders in early stages, which will be helpful to clinicians to distinguish the different nail conditions and associated illness and decide on the correct management. It is important to counsel the family about the benign nature of the disease and good prognosis.

A Case of Nail Dystrophy with Selective Immunoglobulin A Deficiency / 대한피부과학회지

No abstract available.

Diagnóstico molecular de paquioniquia congénita / Molecular diagnosis of congenital pachyonychia

La paquioniquia congenital (PC) es una genodermatosis poco frecuente, caracterizada por presentar queratodermia palmoplantar dolorosa y debilitante, uñas hipertróficas, hiperqueratosis folicular, quistes epidérmicos, leucoqueratosis oral y ocasionalmente hiperhidrosis, ronquera y dientes natales. Está asociada a mutaciones heterocigotas en los genes que codifican queratinas 6a, 6b, 6c, 16 y 17. Se presenta una familia con dos miembros en dos generaciones afectados por PC: un niño de 2 años de edad con alteración de la coloración, hiperqueratosis de las 20 uñas, con dolor periungueal, múltiples pápulas foliculares color piel en tronco y dientes natales y su madre, con alteración del esmalte dentario, distrofia hipertrófica de las 20 uñas, cromoniquia, queratodermia plantar dolorosa y múltiples esteatocistomas de distribución generalizada.En ambos, se realizó el diagnóstico molecular por secuenciación masiva de exoma clínico, el cual confirmó el diagnóstico clínico y permitió determinar inequívocamente el tipo de PC en el niño, motivo de ésta presentación.

Pachyonychia congenital (PC) is a rare genodermatosis characterized by painful palmoplantar keratoderma, hypertrophic nail dystrophy, follicular hyperkeratosis, epidermal cysts, oral leukokeratosis and, less commonly, palmoplantar hyperhidrosis, hoarseness and natal teeth. PC is caused by mutations in keratin 6a, 6b, 6c, 16 and 17 genes. We report a family with two members in two generations affected by PC: a two-year old boy, presenting abnormal pigmentation and hyperkeratosis of the 20 nails, perionychium pain, multiple skin-colored follicular papules on the trunk and natal teeth. His mother has dental enamel defects, hypertrophic dystrophy of the fingernails and toenails, chromonychia, painful plantar keratoderma and generalized steatocystoma multiplex. We performed the molecular diagnosis by clinical exome massive sequencing which allowed us to confirm the clinical diagnosis and to determine the specific type of PC in our patient.

Therapeutic Efficacy of Combination Therapy Using Oral Cyclosporine with a Dietary Supplement (Pantogar®) in Twenty-Nail Dystrophy

BACKGROUND: Twenty-nail dystrophy (TND) is an acquired idiopathic disease characterized by dull, thin, lusterless, and fragile nails with fissuring, small regular pits, and excessive longitudinal ridging. Although various treatment modalities have been performed in order to treat TND, the effects of these treatments are controversial. OBJECTIVE: To evaluate the effectiveness of oral cyclosporine in TND. METHODS: A total of 38 patients with TND were treated with combination therapy using oral cyclosporine with a pantothenic acid complex-based dietary supplement (Pantogar®; Merz Pharmaceuticals GmbH, Germany), whereas 44 patients were treated with the pantothenic acid complex-based dietary supplement alone. The therapeutic efficacy in each group was retrospectively evaluated using medical records and clinical photographs. RESULTS: The cyclosporine therapy group had significantly more patients whose improvement was rated as almost clear, marked, or moderate compared to the control group (p<0.001). While the mean CHATS (Color, Hyperkeratosis, Area, Thickness, Separation) score of the cyclosporine therapy group was decreased by 13.45 (from 30.95 to 17.5) after treatment, the mean CHATS score of the control group was only decreased by 8 (from 29.43 to 21.43, p<0.001). Moreover, greater Dermatology Life Quality Index changes after treatment were observed in the cyclosporine therapy group (p=0.085). CONCLUSION: Oral cyclosporine can be a valuable therapeutic option in patients with TND.

Four Cases of Median Nail Dystrophy Treated with Intralesional Steroid Injection / 대한피부과학회지

No abstract available.

Clouston's Syndrome—A Case Report

Clouston's syndrome or Hidrotic ectodermal dysplasia is an autosomal-dominant inherited rare ectodermal dysplastic disorder characterized by triad of nail dystrophy, palmoplantar keratoderma, and alopecia. Here we present a case report of clouston syndrome with classical triad along with hypodontia, microdontia and severe mental retardation. This is being reported because of it is rarity.

Epidermolysis bullosa pruriginosa: A rare presentation with asymptomatic lesions.

Epidermolysis bullosa pruriginosa (EBP) is a subtype of dominant dystrophic epidermolysis bullosa (DDEB) and is clinically characterized by pruritic lichenified plaques or prurigo-like lesions with violaceous linear scarring. Pruritus has always been described as one of the most striking features in EBP. Mutations in COL7A gene, especially in the glycine residue, have been shown to cause this form of DDEB. In this report, we describe a north Indian familial clustering of three cases of EBP, spread across two generations, presenting with hypertrophic lichenoid cutaneous lesions, which were completely asymptomatic. Clinical and histopathological analysis favored the diagnosis of EBP in all three cases. They are being reported for their unusual asymptomatic presentation.

A Clinical Study of Beau's Lines / 대한피부과학회지

BACKGROUND: Beau's lines are transverse furrows of the nail plates that can be caused by various conditions. Because the clinical manifestations of Beau's lines tend to depend on its causes, the clinical manifestations may provide diagnostic clues of causative or underlying diseases. OBJECTIVE: This study is conducted to provide a better understanding of Beau's lines and to give dermatologists diagnostic clues from assessment of its morphological patterns. METHODS: In order to investigate the clinical characteristics and patterns of Beau's lines according to its clinical manifestations, a retrospective study was being performed. A total of 150 patients with Beau's lines who visited the nails clinic of our hospital from January 1, 2006, to September 30, 2010, were included. RESULTS: The group of patients with Beau's lines consisted of 78 males (52%) and 72 females (48%). The onset age ranged from 1 to 82 years old. The most frequently involved fingernail was the right thumb nail. In this study, causes of Beau's lines were grouped into eight categories: idiopathic, traumatic, nail/skin disease, systemic illness, bone marrow transplantation, chemotherapy, nail infection, and others. Idiopathic cause was observed the most frequently. The pattern of Beau's lines was symbolized in each patient and was depicted in a row according to order of frequency. The pattern of N2B2L1D1M2 (Numerous/Multiple/Incomplete/Deep/Broad) was observed overall as the most frequently. The most common pattern in the nail/skin diseases category was N2B1L1D1M2 (Numerous/Single/Incomplete/Deep/Broad). In the traumatic group, N1B2L1D1M2 (Confined/Multiple/Incomplete/Deep/Broad) was the most frequently observed pattern. CONCLUSION: This study explored the clinical manifestations of Beau's lines. In some categories of causes, the morphological patterns showed a tendency to converge. Thus, the morphological patterns can provide certain diagnostic information.

A Case of Syphilid with Nail Dystrophy / 대한피부과학회지

Syphilis, the "great imitator" of skin diseases, is a chronic systemic infectious disease with a waxing and waning course. Clinical manifestations of syphilis are variable in appearance and have been described for centuries. Especially, secondary syphilis is characterized by large diversity of presentation. They include macular, papular, papulosquamous, syphilis cornee, psoriasiform, annular en cockade, nodular, condylomata lata, malignant syphilis, mucosal lesions, loss of the hairs, and alteration of the nails. Nail involvement of syphilis includes changes on nail plate (syphilitic onychia) or periungual tissue (syphilitic paronychia). A 20-year-old man was presented with multiple erythematous broad eroded surfaced papules and macules on the scrotum and scaly exfoliated patch with erythematous swelling on the right thumb with onychodystrophy and mild tenderness on the nail. Serological screening for syphilis showed increased titer for VDRL (1:16) and TPHA (+). After intramuscular treatments with benzathine penicillin G, the skin lesions on the scrotum cleared within 1 month and the nail dystrophy showed slight improvement.

Pachyonychia Congenita Affecting the Nails Only in the Mother and Son / 대한피부과학회지

Pachyonychia congenita (PC) is a rare autosomal-dominant ectodermal dysplasia, which is characterized by hypertrophic nail dystrophy, diffuse or focal symmetrical hyperkeratosis of the palms and soles, oral leukokeratosis, follicular keratosis on the extensor surfaces of the extremities, and other ectodermal defects. However, the variable degree of gene mutation may result in nail abnormalities alone. The nail changes presented in our patient are the only clinical manifestation. Hypertrophic nail dystrophy and yellowish discoloration, without involving any other organs, were shown in both mother and baby since birth. To the best of our knowledge, the case of PC affecting only the nails has never been reported in Korea before. Herein, we report monosymptomatic form of PC, which is notable for its rareness and unique pattern, distinct from previously reported cases.

Comments to "Various Nail Disorders Misdiagnosed and Treated as Onychomycosis" / 대한피부과학회지

No abstract available.

Trachyonychia: A comprehensive review.

Trachyonychia or rough nails, may present as an idiopathic disorder of the nails or it can be associated with other dermatological conditions. The dystrophic nail findings seen in trachyonychia are characterized by brittle, thin nails, with excessive longitudinal ridging. The most common histopathologic features associated with trachyonychia are spongiosis and exocytosis of inflammatory cells into the nail epithelia; typical features of lichen planus or psoriasis can also be detected. Determining the cause of trachyonychia is challenging. Treatment is often unsatisfactory, although in general it should be aimed at the underlying cause, if found. In most cases, the nail abnormalities improve spontaneously.

Six Cases of Lichen Planus Limited to the Nails / 대한피부과학회지

Lichen planus (LP) is an inflammatory dermatosis of an idiopathic origin that can involve the skin, mucous membranes, hair and nails. Nail involvement occurs in 10% of patients with LP and permanent damage of at least one nail occurs in approximately 4% of these patients. LP limited to the nails without cutaneous involvement has rarely been reported in the literature. We report here on six cases of LP limited to the nails. The two patients presented as 20 nail dystrophy characterized by nail roughness and excessive longitudinal ridges. The other patients presented with typical nail LP that was characterized by nail plate thinning with longitudinal ridges and fissures.

Pachyonychia congenita with unusual features.

Pachyonychia congenita is a rare hereditary disorder characterized by gross thickening of all finger and toenails. We report an infant who had clinical features consistent with pachyonychia congenita type II, with unusual features of microcephaly, seizures, electroencephalogram abnormalities, failure to thrive, and heterochromia iridis.

A Clinical Study of 21 Cases of Washboard Nail / 대한피부과학회지

BACKGROUND: Washboard nail most commonly involves the thumbnail or great toenail. As its name implies, it resembles a washboard with a series of evenly spaced ridges across the nail. A central depression can be seen as well. This can develop as the result of repeated habitual trauma to the proximal nail fold by the other fingers or by biting the nailplate. Thus, it is also called habit tic deformity or traumatic nail dystrophy. Although it is known to be not uncommon, there have been no studies on this with a sufficient number of cases and long term follow up. OBJECTIVE: This study was conducted to provide a better understanding of washboard nail and to estimate the outcome of it. METHODS: We reviewed all the medical records and clinical photographs of 21 patients who had been diagnosed with washboard nail at our department between July 2000 and July 2009. RESULTS: The male to female ratio was 1:1.3. The patients' ages varied from 6 to 68 years, with an average of 25.4 years. The mean duration at the first visit was 4.4 years. The most common involved site was both thumbnails. Predisposing factors were found in 42.9% of the patients, which included nail picking or onychophagia. The treatment options were primarily intralesional triamcinolone injection and topical steroid. If the patient had the habitual tic, we educated them to restrain it. The follow up periods varied from 1 to 32 months with a mean of 7.9 months. Among the 14 patients with adequate follow up, 50% of these patients showed clinical improvement. CONCLUSION: This study demonstrated the clinical features of washboard nail. Physicians should closely observe the nail changes and long-term follow up is needed to determine the therapeutic response of patients with washboard nail.

A Case of Nail-patella Syndrome / 대한피부과학회지

Nail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by fingernail dysplasia, hypoplastic or absent patellae, dislocation of the radial head, and bony protuberances of the iliae, also known as iliac horns. It results from a heterogenous loss of function or mutations in the transcription factor (LMX1b). Herein, we report a rare case of nail-patella syndrome in an 18 month-old female.

A Case of Alopecia Universalis with Vogt-Koyanagi-Harada Syndrome / 대한피부과학회지

Vogt-Koyanagi-Harada (VKH) syndrome is an idiopathic autoimmune disease involving melanocytes. The characteristic features are uveitis, meningismus, tinnitus, alopecia, vitiligo and poliosis, dependent upon the site of melanocyte location. Among the skin manifestations, alopecia usually appears as discrete, alopecic patches around the head. We report a case of fifty-year-old woman who presented with typical features of VKH syndrome, plus alopecia universalis and nail dystrophy.

A Case of Twenty Nail Dystrophy Treated with Topical Tretinoin Application / 대한피부과학회지

Twenty-nail dystrophy is a distinctive pattern of nail changes, in which all 20 nails are uniformly affected with excessive longitudinal ridging and loss of luster. It occurs at any age ranging from children to adulthood, however, it is most commonly diagnosed in children. It can be idiopathic or caused by other inflammatory dermatoses, but the exact cause and pathogenesis of these changes are so far unknown. Several treatment modalities have been employed for treatment of twenty-nail dystrophy, such as topical steroid, intralesional steroids injection, and topical PUVA, however, without much success. We herein report a case of an adults, patient with twenty-nail dystrophy which was successfully treated with topical 0.025% Tretinoin cream.