Anoniquia Congénita Asociada a Herencia Autosómica Dominante, Síndrome de Cooks

Resumen El síndrome de Cook fue descrito por primera vez por Cook y colaboradores en 1985. Este se caracteriza por una historia familiar de hipoplasia congénita de las uñas de las manos en los dígitos 1,2 y 3, ausencia de las uñas en los dígitos 4 y 5, braquidactilia del digito 5 de las manos y ausencia complete de las uñas de los pies. Además, puede existir una hipoplasia o ausencia de las falanges distales en los pies y las manos. La oficina de enfermedades raras del Instituto Nacional de Salud, considera este síndrome como una "enfermedad rara". Presentamos el caso de un recién nacido con anoniquia congénita en ambas manos y pies en el digito 2 asociado a hipoplasia ungueal en dígitos 1 y 3 respetando dígitos 4 y 5. La radiografía de los dedos no muestra anormalidades en las falanges. Este caso podría representar una variante del síndrome de Cook o una nueva enfermedad aun no descrita debido a la existencia de una historia familiar importante con similares deformidades en la madre, la abuela y la hermana.

Abstract Cooks syndrome, which was first reported by Cooks et al in 1985. It is characterized by family history of bilateral congenital nail hypoplasia of digits 1,2 and 3, with absence of nails in digits 4, 5, and brachydactyly of digit five of the hands and complete absence of all toenails. In addition, there is hypoplasia or absence of distal phalanges of the hands and feet. According to the Office of rare Diseases of the National Institutes of Health, this syndrome is considered as a "rare disease". We present a newborn child with a history of congenital anonychia in digit 2 in both hands and feet and nail hypoplasia in digits 1 and 3 sparing digits 4 and 5. Radiography of the fingers shows no abnormalities in the phalanges. This case could represent a variant of Cooks syndrome or a new disease not yet described because of the existence of an important family history with similar deformities in the mother, grandmother and sister.

Long-Pulse Nd:Yag Laser for the Treatment of Onychodystrophy / 대한피부과학회지

No abstract available.

Solitary Subungual Myxoid Neurofibroma of the Thumb: A Case Report

PURPOSE: Subungual tumors are a common cause of nail plate deformity, and may be caused by fibrokeratoma, Koene's tumor and glomus tumors. Neurofibromas, either as part of neurofibromatosis or as a solitary tumor are exceptionally rare in the digits. METHODS: A 44-year-old man presented with painless onychodystrophy and nail plate elevation of the right thumb due to a small subungual mass that had started growing 3 years ago. Sensory evaluation of the distal phalanx was normal, and no discoloration nor infection signs were seen. The nail plate was extracted under local anesthesia, and the mass was delicately removed without injury to the nail bed. The nail matrix was repaired with primary closure. RESULTS: Histopathology shows a well circumscribed, cellular tumor with myxoid stroma. Tumor cells were S-100 protein positive, and the patient was diagnosed with myxoid neurofibroma. There has been no sign of recurrence to date, 14 months after the operation. CONCLUSION: Presentation of cutaneous neurofibromas in the digits is an uncommon finding. They may occur as a manifestation of neurofibromatosis or as a solitary tumor. Subungual neurofibromas are exceptionally rare. To our knowledge, there are only ten reports of solitary subungual neurofibroma unrelated to neurofibromatosis to date. We report a rare case of solitary subungual myxoid neurofibroma of the thumb, that was treated through total excision, with preservation of the nail matrix.

DOOR Syndrome.

DOOR syndrome is a rare multisystem genetic disorder, consisting of deafness (sensorineural), onychodystrophy, osteodystrophy, and mental retardation. Seizures reported frequently in this condition are often refractory to treatment

Treatment of Chronic Idiopathic Onychodystrophy with Intake of Carotene-rich Food

BACKGROUND: Onychodystrophy refers to the various abnormalities in nail morphology due to changes in the attachment of the nail plate, changes in nail surface or color. The treatment principle of onychodystrophy largely relies on the discovery and verification of the cause. However, preventive treatment methods offer little help to the patient due to poor compliance, and the effect of corticosteroid is only temporary. OBJECTIVE: To evaluate the clinical efficacy of carotene-rich food intake in chronic idiopathic onychodystrophy. METHODS: Ten patients with chronic idiopathic onychodystrophy were recommended to drink one or two cups of carrot juice daily. RESULTS: Patients showed improvement of onychodystrophy after drinking carrot juice twice a day for at least 4 weeks. No specific adverse effects were noted. CONCLUSION: Since there are no reliable treatment methods for chronic idiopathic onychodystrophy, we suggest a simple and compliant treatment method consisting of taking carotene-rich food, such as carrot juice, for patients with chronic idiopathic onychodystrophy.

Effect of Steroid Intralesional Treatment on Onychodystrophy / 대한피부과학회지

BACKGROUND: Onychodystrophy is a disorder which is still difficult to properly diagnose. Although onychodystrophy has many treatment modalities, such as systemic steroids, topical steroids, steroid intralesional injection, phototherapy, or calcitriol, no method has proven to be totally satisfactory. OBJECTIVE: The aim of our study was to evaluate the therapeutic effect of intralesional triamcinolone acetonide injection on onychodystrophy. METHODS: Retrospective analysis was undertaken by reviewing the clinical records of 43 patients who had been diagnosed with onychodystrophy between 1995 and 2005. They were treated with 10 mg/ml triamcinolone intralesional injection to the proximal or lateral nail fold. Intralesional injection was performed at 1~2 month intervals. Of the total 43 patients, 36 patients were scored against 4 grades: Grade 0 (no response), Grade 1 (less than 50% improvement), Grade 2 (less than 75% improvement), and Grade 3 (more than 75% improvement). RESULTS: Therapeutic effects were as follows; Of 36 patients, 4 (11%) were classified as Grade 1 (less than 50% improvement), 10 (27.8%) as Grade 2 (less than 75% improvement), and 17 (47.2%) as Grade 3 (more than 75% improvement). Trachyonychia was the most common percentage in our study classification. Trachyonychia responded well to treatment and by more than 72.8% more than compared to Grade 2. Furthermore, of the 31 (86.8%) patients who showed a Grade 1 to 3 effect, 14 (39.2%) had less than 4 TA injections in total. CONCLUSION: Intralesional injection of triamcinolone acetonide into onychodystrophy is a useful, efficacious treatment.

Therapeutic Effect of Intra-lesional Triamcinolone Injection on Idiopathic Onychodystrophy / 대한피부과학회지

BACKGROUND: Intra-lesional triamcinolone injection is a widely used treatment modality of onychodystrophy. However, clinical evaluation has rarely been performed for the therapeutic effect of intra-lesional triamcinolone injection in the treatment of idiopathic onychodystrophy, except for psoriatic nail. OBJECTIVE: The purpose of this study was to investigate the therapeutic effect of intra-lesional triamcinolone injection on idiopathic onychodystrophy. METHODS: A total of 43 patients diagnosed as idiopathic onychodystrophy were enrolled in this study. At first 2 visits, triamcinolone acetonide (2.5mg/ml) was injected into the proximal nail fold of each nail using the dermo-jet. Thereafter, intra-lesional injection was performed at 4-week intervals with two-fold increased concentration of triamcinolone acetonide (5mg/ml). After a total of 7 treatments, the treated nails were scored by both doctor and patient between 0 and 10 according to the severity. RESULTS: In 26 patients treated for more than 12-weeks, 189 nails were eventually assessed by four grade scale. Therapeutic effects were as follows; excellent improvement in 19.8%, good in 28.8%, moderate in 11.6%, and poor in 38.6%. Onycholysis responded well to this treatment, with 81.1% of good to excellent improvement, whereas trachyonychia was resistent with 78.1% of poor to moderate improvement. There was no significant side effect, except pain on the injection site. CONCLUSION: According to our results, intra-lesional injection of triamcinolone acetonide is an effective and safe treatment modality of idiopathic onychodystrophy. It is suggested that, with intra-lesional triamcinolone injection, the morphologic classification is an important prognostic factor in the treatment of idiopathic onychodystrophy.

Systematized Epidermal Nevi Associated with Congenital Alopecia Universalis and Onychodystrophy

We report a case of a 25-year-old woman with systematized epidermal nevi associated with alopecia universalis and onychodystrophy. The histopathologic examinations by light and electron microscopies of the epidermis of the trunk and scalp lesions showed epidermal nevus with characteristic features of epidermolytic hyperkeratosis. This is a rare case of systematized epidermal nevi associated with congenital alopecia universalis and onychodystrophy. Though there is no apparent gross skin lesion on the hair bearing area, the development of epidermal nevi can affect the hair and nail units which are derived from the common epidermal germinative cells.