Detection of a Novel Missense Mutations in Atrichia with Papular Lesions

BACKGROUND: Atrichia with papular lesions (APL) is a rare inherited disease characterized by early onset of total hair loss, followed by papular lesions over the extensor areas of the body. Recently, mutations in the human hairless (HR) gene have been implicated in its pathogenesis. The identification of mutations in the HR gene is important for differentiating between APL and alopecia universalis (AU). OBJECTIVE: We compared the HR genes of patients with presumed AU who showed minimal or no response to treatment with the HR genes of healthy controls. METHODS: The subjects were 11 patients with presumed AU who had not responded to treatments. Fifty healthy people were included as controls for molecular analysis. To screen for mutations, polymerase chain reaction was performed. RESULTS: DNA analysis identified a novel heterozygous G-to-A transition at nucleotide position 191 in exon 5. The mutation was not found in the controls, other AU patients, or any unaffected family members except for the patients' mother and maternal grandfather, who were heterozygous HR gene carriers. CONCLUSION: Our study identifies a novel missense mutation in exon 5 of the HR gene in a Korean APL patient previously diagnosed as AU.

Giant Acquired Digital Fibrokeratoma Occurring on the Left Great Toe

Acquired digital fibrokeratoma is an uncommon, benign fibrous tumor which usually occurs in adults as a solitary lesion. The most frequent locations are fingers and toes and the size of the tumor is generally small, around 3~5 mm. An 18-year-old female presented with a solitary, skin-colored, round and protruded nodule of the left great toe. The size of nodule was 2.5x1.6x1.4 cm. Histopathologic examination revealed typical findings of acquired digital fibrokeratoma. Herein, we report a giant acquired digital fibrokeratoma.

A Case of Adams-Oliver Syndrome

Adams-Oliver syndrome (AOS) is a congenital condition characterized by aplasia cutis congenita, transverse limb defects, and cutis marmorata telangiectatica. AOS can also be associated with extensive lethal anomalies of internal organs, including the central nervous, cardiopulmonary, gastrourointestinal, and genitourinary systems. Generally, the more severe these interrelated anomalies are, the poorer the prognosis becomes. In the relevant literature on this topic, it is somewhat unclear as to whether the prognosis of AOS without lethal anomalies alters the lifespan. We report a case of AOS with typical skin defects only, and no internal organ anomalies.

Dermatologic Diseases Associated with Atopic Dermatitis in Koreans: Multicenter Study / 대한피부과학회지

BACKGROUND: Dermatological diseases can occur with atopic dermatitis. OBJECTIVE: The purpose of this study was to analyze diseases associated with atopic dermatitis in Koreans. METHODS: From November, 2007, to May, 2008, 948 patients with atopic dermatitis who visited the department of dermatology at 19 hospitals were evaluated for associated diseases. RESULTS: Of 948 patients, 53.8% (510) had symptoms associated with other dermatological diseases. In order of frequency, diseases associated with atopic dermatitis included acne, hand/foot eczema, seborrheic dermatitis, urticaria, warts, and recurrent herpes simplex. The number of associated diseases did not change significantly with the severity of atopic dermatitis. However, the incidence of hand/foot eczema and eczema herpeticum correlated significantly with the severity of atopic dermatitis. CONCLUSION: There is a distinct pattern of diseases associated with atopic dermatitis in Koreans.

O-X Flap; Quadripolar Advancement Flap / 대한피부과학회지

Large surgical defects are often difficult to repair and extensive adjacent skin transfer may be necessary. The purse-string suture can be used to reduce the size of large defects, but a second intervention may be necessary and requires several weeks for complete healing. Therefore, reconstruction of large defects is a challenge to the dermatologist. We report a case of basal cell carcinoma on the back in which the skin defect was reconstructed by a quadripolar advancement flap. Because the large O-shaped defect resulted in an X-shaped closure, we named this flap the O-X flap.

Vitiligo Coexistent with Nevus Depigmentosus: This Was Treated with Narrow-Band UVB and These Lesions Were Followed Using the Mexameter(R), a Pigment-Measuring Device

Nevus depigmentosus (ND) is a congenital, non-progressive, hypopigmented lesion that is usually stable throughout an affected individual's lifetime. The clinical features of vitiligo are similar to those of ND, but the two diseases have different treatment responses and prognoses. We report here on a rare case of vitiligo that was coexistent with ND. Both conditions were treated with narrow-band UVB. An 11-year-old boy presented with two distinct types of hypopigmented lesions, one on the forehead and the other on his back. The first was a hypopigmented patch with leukotrichia, and it was incidentally discovered 3 months before the child was examined at our clinic and it had rapidly increased in size. The second hypopigmented patch was detected at birth and it had slowly been increasing in size. The hypopigmented lesion on the child's forehead was diagnosed as vitiligo, and the one on his back as ND. Once- or twice-weekly narrow-band UVB treatment was initiated. Improvements in the two lesions were assessed with clinical photography and using a Mexameter(R) (Courage-Khazaka Electronic, Germany), which is a pigment-measuring device.

Retronychia, a Proximal In-growth of the Nail Plate / 대한피부과학회지

Retronychia is a process of a nail embedding itself into the proximal nail fold due to an incomplete shedding of the nail, and this usually occurs after physical trauma. Retronychia causes persistent paronychia and defective nail growth on the patients. Simple avulsion of the superimposed nail is curative. A 17-year-old man presented with tender erythema and swelling on the proximal nail fold of the right 3rd and 4th fingers for 2 months after an operation that was performed due to metacarpal bone fracture. The second patient was a 25-year-old male who presented with a 1-month history of persistent paronychia on his right great toe after blunt trauma. For both patients, simple avulsion of the damaged nail was curative and underlying new nails were revealed. We report here on two cases of retronychia that could be easily overlooked and such cases have not been previously reported in the Korean dermatologic literature.

Fibroepithelioma of Pinkus Resembling Seborrheic Keratosis on the Thigh / 대한피부과학회지

Fibroepithelioma of Pinkus (FEP) is an uncommon variant of basal cell carcinoma and this typically appears as single or multiple nodular lesions on the lower back of the elderly. We report here on a case of a 59-year-old woman who presented with an asymptomatic erythematous sessile plaque on the lateral side of her right thigh, and she'd had this lesion for 8 years. Histologic examination showed anastomosing strands of basaloid cells extending from the overlying epidermis into the dermis. The tumor cells with large, oval nuclei and relatively little cytoplasms were grouped in a palisade pattern at the periphery of the tumor mass. The tumor was completely excised with a clear resection margin. The patient showed no recurrence for 10 months. For an elderly patient with a long-standing nodule found anywhere on the body, performing a skin biopsy should be considered to exclude malignancy, including FEP.

The Correlation between SCORAD Index and Instrumental Assessment in Evaluation of Atopic Dermatitis Severity / 대한피부과학회지

BACKGROUND: Atopic dermatitis is a chronic relapsing inflammatory skin disease characterized by dry skin, pruritus, and typical distribution of the lesions. Because an objective tool for the assessment of disease severity of atopic dermatitis has yet to be agreed upon, many dermatologists are dependent on subjective history and clinical scoring. Recently, instrumental measurements have been used for the assessment of skin barrier function. OBJECTIVE: The purpose of this study was to assess the correlation between SCORAD (scoring of atopic Dermatitis) index and the results of instrumental assessments of disease severity in atopic dermatitis. Additionally, we compared the values of instrumental measurements on normal and lesional skin. METHODS: From February to April 2007, 44 patients with atopic dermatitis were treated with topical steroids, topical calcineurine inhibitors, oral antihistamine agents and systemic steroids. At initial visit, and after 1, 2, 3, and 4 weeks of treatment, the SCORAD index was measured, and instrumental measurements of skin surface hydration (SSH), transepidermal water loss (TEWL), and pH were performed on the antecubital fossa (lesional skin) and flank (normal skin) of the patients by Corneometer(R), Tewameter(R), and skin-pH-meter(R). RESULTS: Significant correlation was found between SCORAD index and SSH (p<0.0001), TEWL (p<0.0001), and pH (p=0.1680). SSH and TEWL improved within 1 week of treatment but pH improved after 2 weeks of treatment. Instrumental assessments showed lesional skin had lower SSH, higher TEWL, and more alkaline pH than normal skin. CONCLUSION: Instrumental measurements showed correlation with SCORAD index. Therefore, we can use instrumental assessments as well as SCORAD index in the assessment of disease severity of AD.

A Case of Linear Focal Elastosis with a Family History

Linear focal elastosis is an uncommon disorder typically occurring in the back region, which clinically presents as band-like striae, having a histological focal increase in abnormal elastic fibers. Until now, linear focal elastosis occurring in patients with a family history have been rarely reported. Here, we present one such case, of linear focal elastosis which occurred in a brother and sister.

A Case of Superficial Acral Fibromyxoma Occurring after Trauma in a Childhood Patient / 대한피부과학회지

Superficial acral fibromyxoma is a rare, distinctive soft tissue neoplasm most often located in the periungal region of the fingers and toes. This tumor was recently recognized as a distinct clinicopathological entity and since then quite a few cases have been reported. These tumors are composed of stellate and spindle cells arranged in a loose form, with a fascicular growth pattern, and occur mostly in middle-aged adults. However in our case, the lesion developed in 9-year-old male, who had a history trauma. Although the exact pathogenesis of superficial acral fibromyxoma has not yet been clarified, it is possible that the fibroblast hyperplasia in the lesion could be triggered by trauma. We suggest this case which occurred in a 9-year-old patient, triggered by trauma, is a peculiar and interesting event.

A Case of Syphilitic Keratoderma Concurrent with Syphilitic Uveitis

Syphilitic keratoderma is a rare cutaneous manifestation of secondary syphilis, characterized by symmetrical and diffuse hyperkeratosis of the palms and soles. In addition, no cases of syphilitic keratoderma and uveitis have been reported in the dermatologic literature. A 69-year-old woman presented with steroid-resistant hyperkeratotic patches on the palms and soles and uveitis for 4 months. As steroid-resistant uveitis must be evaluated for syphilis, viral infections, and autoimmune diseases, we ran several laboratory tests and the serologic test for VDRL was reactive (titer; 1:128). After treatment with penicillin G (4 MU, IV every 4 hours for 2 weeks), her skin lesions and visual disturbance were completely resolved. Therefore she was diagnosed as having syphilitic keratoderma and uveitis. Here, we report a rare case of syphilitic keratoderma concurrent with syphilitic uveitis and suggest that evaluation for syphilis may be required when skin lesions and ocular disturbance are resistant to long-term steroid therapy.

A Case of Herpetic Whitlow / 대한피부과학회지

Herpetic whitlow is a painful cutaneous infection that occurs on the fingers and toes, and it is caused by herpes simplex virus (HSV)-1 or -2. It is correlated with the immunocompromised state of patients or with occupations that are in frequent contact with the secretions or mucous membranes infected by HSV. We present here a 29-year-old woman who was referred to our department with recurrent vesicles and ulcerative lesion of the right 3rd finger. She was immunocompetent and did not have any occupational hazard of herpetic whitlow. We made the diagnosis of herpetic whitlow by the clinical features and the histopathologic examinations. In addition, we used polymerase chain reaction assay to detect the type of HSV and we confirmed she suffered with herpetic whitlow that was caused by HSV-2.

Dermoscopic Patterns of Acral Melanocytic Nevi in Koreans / 대한피부과학회지

BACKGROUND: Melanocytic nevi are frequently found in acral skin. Benign melanocytic lesions on acral sites may be difficult to differentiate from early acral melanoma by visual examination even for experienced dermatologists. Dermoscopy is a noninvasive method for evaluating pigmented skin lesions. OBJECTIVE: The purpose of this study was to investigate the clinical and dermoscopic features of acral melanocytic nevi in Koreans. METHODS: We studied 57 patients with acral melanocytic lesions using standard clinical assessment and dermoscopy. The patients were examined for acral melanocytic nevi clinically and by using a dermoscope with a digital imaging system, and the acral nevi larger than 7 mm and the suspicious lesions were excised and examined histopathologically. RESULTS: Sixty five acral melanocytic nevi were observed in 57 patients. Individual lesions were located on the soles (n=32), palms (n=11), and volar aspect of the fingers or toes (n=22). The most common dermoscopic pattern was the parallel furrow pattern (52.3%). The other patterns seen were a latticelike pattern (21.6%), a fibrillar pattern (9.2%), a reticular pattern (6.2%), a globular pattern (4.6%), a nontypical pattern (4.6%) and a transition pattern (1.5%). The frequency of distribution of the fibrillar and reticular patterns was significantly different (p=0.033, p=0.015). CONCLUSION: Dermoscopy proved to be a useful instrument for the evaluation of acral melanocytic lesions. In our series of acral nevi, we observed 7 dermoscopic patterns with varying distributions on anatomical sites. We think that further studies on acral melanocytic nevi with digital follow-up are needed to clarify their evolution.

A Hydroxyurea-induced Leg Ulcer

Hydroxyurea is a cytostatic agent that has recently become the drug of choice in the treatment of various myeloproliferative diseases. The cutaneous side effects of hydroxyurea include xerosis, hyperpigmentation, nail discoloration, and scaling. Leg ulcers have only rarely been reported in association with hydroxyurea treatment. A 75-year-old woman presented with leg ulcers, nail discoloration, and xerosis. The leg ulcers were refractory to conventional treatment. She had been taking oral hydroxyurea since being diagnosed with essential thrombocytosis in 2002. Hence, we suspected hydroxyurea-induced leg ulcers and discontinued her hydroxyurea treatment; the ulcers gradually healed thereafter. We present a rare case of hydroxyurea-induced leg ulcers in Korea.

A Case of Benign Symmetric Lipomatosis Limited to the Face / 대한피부과학회지

Benign symmetric lipomatosis is a very rare disease that's characterized by a symmetric accumulation of excessive amounts of adipocytes. The lesions are located mainly on the neck, trunk and proximal extremities. Although its etiology is unknown, it has been described to be associated with a heavy alcohol intake. A 51-year-old woman presented with a two year history of ill-defined soft masses on both mandibular areas. We made the diagnosis of benign symmetric lipomatosis according to the histopathologic examination. As a difference from other reports of benign symmetric lipomatosis, our patient was non-drinker for her past history. We present here a case of benign symmetric lipomatosis at an unusual predilection site and this developed in a non-drinker.

A Case of Solitary Neurofibroma Resembling a Hemangioma / 대한피부과학회지

Solitary neurofibroma is a benign soft tissue tumor. Clinically, it appeared protuberant to pedunculated, flesh-colored, soft papules or nodules. Although it can appear on any site of the body, finger involvement is rare. Herein, we report the case of a 57-year-old woman with a solitary neurofibroma of the right 4th finger which looked like hemangioma.

A Case of Solitary Neurofibroma Resembling a Hemangioma / 대한피부과학회지

Solitary neurofibroma is a benign soft tissue tumor. Clinically, it appeared protuberant to pedunculated, flesh-colored, soft papules or nodules. Although it can appear on any site of the body, finger involvement is rare. Herein, we report the case of a 57-year-old woman with a solitary neurofibroma of the right 4th finger which looked like hemangioma.

Progressive Macular Hypomelanosis in Korean Patients: A Clinicopathologic Study

BACKGROUND: Progressive macular hypomelanosis is characterized by ill-defined, non-scaly, hypopigmented macules primarily on the trunk of the body. Although numerous cases of progressive macular hypomelanosis have been reported, there have been no clinicopathologic studies of progressive macular hypomelanosis in Korean patients. OBJECTIVE: In this study we examined the clinical characteristics, histologic findings, and treatment methods for progressive macular hypomelanosis in a Korean population. METHODS: Between 1996 and 2005, 20 patients presented to the Department of Dermatology at Busan Paik Hospital with acquired, non-scaly, confluent, hypopigmented macules on the trunk, and with no history of inflammation or infection. The medical records, clinical photographs, and pathologic findings for each patient were examined. RESULTS: The patients included 5 men and 15 women. The mean age of onset was 21.05+/-3.47 years. The back was the most common site of involvement. All KOH examinations were negative. A Wood's lamp examination showed hypopigmented lesions compared with the adjacent normal skin. A microscopic examination showed a reduction in the number of melanin granules in the lesions compared with the adjacent normal skin, although S-100 immunohistochemical staining did not reveal significant differences in the number of melanocytes. Among the 20 patients, 7 received topical drug therapy, 6 were treated with narrow-band ultraviolet B phototherapy, 4 received oral minocycline, and 3 did not receive any treatment. CONCLUSION: Most of the patients with progressive macular hypomelanosis had asymptomatic ill-defined, non- scaly, and symmetric hypopigmented macules, especially on the back and abdomen. Histologically, the number of melanocytes did not differ significantly between the hypopigmented macules and the normal perilesional skin. No effective treatment is known for progressive macular hypomelanosis; however, narrow-band ultraviolet B phototherapy may be a useful treatment modality.

A Case of Acquired Smooth Muscle Hamartoma on the Sole

A smooth muscle hamartoma is a benign proliferation of smooth muscle bundles within the dermis. It arises from smooth muscle cells that are located in arrector pili muscles, dartos muscles, vascular smooth muscles, muscularis mammillae and the areolae. Acquired smooth muscle hamartoma (ASMH) is rare, with only 10 such cases having been reported in the English medical literature to date. Most of these cases of ASMH were shown to have originated from arrector pili and dartos muscles. Only one case was reported to have originated from vascular smooth muscle cells. A 21 year-old woman presented with a tender pigmented nodule, with numbness, on the sole of her foot, and this lesion had developed over the previous 18 months. The lesion showed no hyperpigmentation or hypertrichosis, and the biopsies demonstrated increased smooth muscle bundles in the dermis, and especially around the blood vessels. Moreover, the specimens stained positive with Masson trichrome stain and alpha-smooth-muscle actin antibodies, thus supporting our diagnosis of ASMH of the foot sole. Herein, we report on a rare case of ASMH on the foot sole, and this lesion originated from vascular smooth muscle cells. This type of case has not been previously described in the English medical literature.