Pincer nail deformity is a severe condition in which the nail bed becomes compressed and the nail shows an overcurvature. We retrospectively analyzed 13 pincer nail deformities treated using our nail plate and bed reconstruction technique. Visual analogue scale scores, the width of nail root, width of nail tip, height of nail tip, width index, and height index were assessed before and after surgery. The overcurvature was corrected after detachment of the nail plate. The nail fold was pushed underneath the nail plate and then fixed. The width of nail tip significantly increased after surgery (p < 0.05) and was maintained during follow-up. The height of nail tip decreased after surgery (p < 0.05). This nail plate and bed reconstruction technique is a simple and quick surgical method for correcting deformities and reduces risks of complications such as skin necrosis and infection compared to other existing surgical techniques. We recommend this efficient surgical technique for the treatment of pincer nails.
Congenital Abnormalities* ; Follow-Up Studies ; Methods ; Nails, Malformed ; Necrosis ; Retrospective Studies ; Skin

No abstract available.
Nail Diseases ; Nails, Malformed ; Melanoma ; Skin Neoplasms

Schinzel-Giedion syndrome is a rare autosomal dominant genetic disease and has the clinical features of severe delayed development, unusual facies, and multiple congenital malformations. In this case report, a 14-month-old boy had the clinical manifestations of delayed development, unusual facies (prominent forehead, midface retraction, hypertelorism, low-set ears, upturned nose, and micrognathia), and multiple congenital malformations (including cerebral dysplasia, dislocation of the hip joint, and cryptorchidism). The karyotype analysis and copy number variations showed no abnormalities, and whole exon sequencing showed a de novo heterozygous missense mutation, c.2602G > A (p. D868N), in SETBP1 gene. Therefore, the boy was diagnosed with Schinzel-Giedion syndrome. Myoclonic seizures in this boy were well controlled by sodium valproate treatment, and his language development was also improved after rehabilitation treatment. Clinical physicians should improve their ability to recognize such rare diseases, and Schinzel-Giedion syndrome should be considered for children with unusual facies, delayed development, and multiple malformations. Gene detection may help with the diagnosis of this disease.
Abnormalities, Multiple ; diagnosis ; genetics ; Craniofacial Abnormalities ; diagnosis ; genetics ; Developmental Disabilities ; diagnosis ; Face ; abnormalities ; Hand Deformities, Congenital ; diagnosis ; genetics ; Humans ; Infant ; Intellectual Disability ; diagnosis ; genetics ; Male ; Nails, Malformed ; diagnosis ; genetics

BACKGROUND: Hair and nails are known to be related in their origin and anatomical structures, and they are similar in their structure and growth pattern. Nail changes were first reported to be associated with alopecia areata (AA) in 1898. One of the clinical features of AA is nail abnormalities, and these are found in 7% to 66% of patients with AA. OBJECTIVE: We evaluated the frequency, clinical presentation, and associated factors of nail changes in patients with AA. METHODS: A prospective study of 121 patients with AA was performed. The diagnosis of AA was made on clinical grounds. Patients' medical history was obtained, and thorough examinations were performed. Patients with other diseases associated with nail changes were all excluded from the study. The association between the clinical features of patients with AA and the prevalence of nail changes was evaluated using logistic regression analysis. RESULTS: Of the 121 patients, 40 (33%) presented with nail changes. In multivariable analysis, younger age (compared with ≥19 years old; odds ratio [OR] 3.663, 95% confidence interval [CI] 1.094~12.346, p=0.035), chronicity (disease duration ≥2 years; OR 2.852, 95% CI 1.230~6.613, p=0.015), and disease subtype (alopecia totalis and alopecia universalis); OR 5.846, 95% CI 1.078~31.717, p=0.041) were identified as independent factors associated with nail changes in patients with AA. Among the nail abnormalities identified, nail pitting was the most common, observed in 20 patients (50%). Trachyonychia was present in 7 patients (16%), leukonychia in 7 (16%), and Beau line in 5 (11%). Other changes were also observed, including melanonychia, onycholysis, absence of lunula, and onychoschizia. CONCLUSION: In conclusion, younger age, chronicity, and disease subtype (alopecia totalis and alopecia universalis) were shown to be independent relevant indicators of the nail changes in patients with AA.
Alopecia Areata* ; Alopecia* ; Diagnosis ; Hair ; Humans ; Logistic Models ; Nails, Malformed ; Odds Ratio ; Onycholysis ; Prevalence ; Prospective Studies

Localized Darier's disease (DD) is a rare variant of DD. The disease is characterized by multiple hyperkeratotic papules in a unilateral, linear, zosteriform or Blaschkoid distribution with the histological features of classical DD. Unlike DD, which presents as a generalized condition, localized DD lacks family history and other clinical findings suggestive of DD such as distinctive nail abnormalities and keratotic papules on the palms and soles. Herein, we describe a case of localized DD in a 31-year old Korean man on the perianal area that was treated with topical retinoid cream.
Darier Disease* ; Humans ; Nails, Malformed

Pterygium inversum unguis (PIU) is a rare nail abnormality in which the distal nail bed adheres to the ventral surface of the nail plate, with obliteration of the distal groove. Because of the rarity of this condition, its exact origin is unknown. This disorder can be either congenital or acquired, with or without a family history. The acquired forms may be idiopathic or secondary to systemic connective tissue diseases or other causes such as stroke, neurofibromatosis, leprosy, or the use of nail fortifiers. We present an unusual case of acquired idiopathic PIU of the 10 fingernails in a 22-year-old man.
Connective Tissue Diseases ; Humans ; Leprosy ; Nails ; Nails, Malformed ; Neurofibromatoses ; Pterygium* ; Stroke ; Young Adult

No abstract available.
Benzamides ; Mesylates* ; Nails, Malformed* ; Piperazines ; Pyrimidines ; Imatinib Mesylate

Schinzel-Giedion syndrome (SGS) is a rare malformation syndrome characterized by severe midface retraction, multiple congenital malformations including hydronephrosis, congenital heart defect, skeletal anomalies and hypertrichosis, and a higher prevalence of tumors. We experienced a case of a male newborn with SGS showing midface retraction with infraorbital deep groove, hypospadia, bilateral hydronephrosis, and hypotonia. At the age of 2 months, hepatosplenogmegaly with unknown cause appeared. There was no evidence of hepatoblastoma in abdominal computed tomography. SGS is known to have an autosomal recessive inheritance pattern. Recently, it has been suggested that de novo mutations of SETBP1 causes SGS. However, there has been no report regarding the genetic analysis of SGS in the Korean population. We first sequenced the exones using array CGH and SETBP1 gene analysis in Korea. However, no specific gene mutation was apparent.
Abnormalities, Multiple ; Craniofacial Abnormalities ; Exons ; Female ; Hand Deformities, Congenital ; Heart Defects, Congenital ; Hepatoblastoma ; Humans ; Hydronephrosis ; Hypertrichosis ; Hypospadias ; Infant, Newborn ; Inheritance Patterns ; Intellectual Disability ; Korea ; Male ; Muscle Hypotonia ; Nails, Malformed ; Prevalence ; Risk Factors ; Seizures

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.
Ectoderm ; Ectodermal Dysplasia ; Extremities ; Humans ; Keratosis ; Korea ; Leukoplakia, Oral ; Mothers ; Nails ; Nails, Malformed ; Pachyonychia Congenita ; Parturition

BACKGROUND: End-stage renal disease (ESRD) is accompanied by various skin manifestations, and recently, the survival time of patients is increasing owing to the development of dialysis treatment, and skin manifestations are on the rise. OBJECTIVE: The objective of this study is to investigate the differences in skin changes, according to the dialysis method and period in ESRD patients, and to verify whether a correlation exists between the factors that affect pruritus. METHODS: Various kinds of skin manifestations were identified by examining and asking 80 outpatients detailed questions and the difference was examined by classifying them into groups, according to the dialysis method and period. RESULTS: The most common symptoms were xerosis (91%) and pruritus (85%). The study showed that most symptoms occurred more frequently in the peritoneal dialysis group than the hemodialysis, and among these, the change of sweating had a significant difference (p=0.043). As the dialysis period got longer, skin manifestation generally showed a higher frequency, and the particular bleeding tendencies and nail abnormalities showed an obvious difference. Results considering the relation of severity of pruritus and xerosis with the dialysis method and period showed a significant increase only in pruritus, according to the dialysis period (p=0.003). CONCLUSION: Skin changes showed a high frequency in peritoneal dialysis, but it didn't show a significant difference. Bleeding tendencies, changes of sweating, and nail abnormalities, according to the dialysis period, showed a significant difference. Factors causing pruritus were more related with xerosis than blood levels showing a renal function.
Dialysis ; Hemorrhage ; Humans ; Kidney Failure, Chronic ; Nails, Malformed ; Outpatients ; Peritoneal Dialysis ; Pruritus ; Renal Dialysis ; Skin ; Skin Manifestations ; Sweat ; Sweating