Multiple Endocrine Neoplasia Type 2B: Early Diagnosis by Multiple Mucosal Neuroma and Its DNA Analysis

Multiple endocrine neoplasia type 2B (MEN 2B) is a rare disease caused by germline mutations in the RET proto-oncogene and is transmitted in an autosomal dominant fashion. It is characterized by medullary thyroid carcinoma, pheochromocytoma and mucosal neuroma developing in the tongue, lip, intestinal tract, palate etc. Among these neoplasias, mucosal neuroma generally develops from early childhood. Therefore, early detection and proper treatment can minimize the disease course. Here we describe a 9-year-old male who presented with multiple verrucous papules and nodules on his lips, tongue and gingiva that were there since birth. Histologic findings of his lips and tongue showed well-defined nerve bundles and DNA analysis revealed a M918T mutation at codon 918 of the RET oncogene. He was diagnosed early as having MEN 2B according to his genetic and phenotypic features.

Supernumerary Nipple Associated with Unilateral Renal Agenesis / 대한피부과학회지

Supernumerary nipple is a developmental anomaly that occurs along the course of the embryological milk lines. The prevalence appears to be higher in women and a wide range of congenital and hereditary anomalies have been described in association with supernumerary nipple, including cardiovascular, gastrointestinal, skeletal and neurologic anomalies, and especially renal and urinary tract anomalies. However, there has been no report of supernumerary nipple with renal anomalies in the Korean dermatologic literature. Herein, we report on an interesting case of a supernumerary nipple with unilateral renal agenesis in a 15-year old man.

Analysis of Dermatologic Consultations in Rheumatologic Inpatients / 대한피부과학회지

BACKGROUND: Many different dermatologic manifestations can accompany a variety of systemic diseases such as rheumatic disorders. The number of patients who have skin lesions related to systemic diseases is steadily increasing. In such cases, dermatologic consultation can be important to diagnosis and treatment. OBJECTIVE: The purpose of this study was to analyze patterns of skin manifestations in rheumatic diseases. METHODS: We did an analysis of data for 192 inpatients who were referred by the department of rheumatology and consulted by the department of dermatology between May 1, 2005 and April 30, 2009. We retrospectively reviewed their medical records and noted age, sex, reasons for dermatologic consultation, diagnosis of the dermatoses and changed diagnosis after the consultation. RESULTS: The percent of patients who were referred by the department of rheumatology and consulted by the department of dermatology was 15.5% (192 consulted inpatients/1,242 rheumatologic inpatients). The most frequent age group was those in their 5th decade of life (23.0%) and the male to female ratio was 1:2.15. Consultations for dermatologic manifestations unrelated to systemic or rheumatic diseases were the most common reason for consultation (62.0%). Dermatoses related to systemic or rheumatic diseases were the 2nd most common reason of consultation (34.9%). Infectious diseases were the most common dermatoses (46 cases). There were 13 cases where there was a diagnosis of undetermined dermatoses and changed diagnosis after dermatologic consultation. CONCLUSION: Analysis of consultations from inpatients referred by the department of rheumatology to the department of dermatology indicates that there is a substantial number of patients that have skin manifestations of their rheumatic diseases.

A Case of Nevus of Nanta

Nevus of Nanta is a pigmented nevus associated with secondary ossification. We describe a case of nevus of Nanta with no evidence of Albright's hereditary osteodystrophy. A 26-year-old Korean woman presented with a small asymptomatic brownish nodule on the right forehead. Histopathologic examination revealed nests of nevus cells in the dermis. Round ossification was in the base of intradermal nevus.

Two Cases of Pyoderma Gangrenosum Associated with Crohn's Disease / 대한피부과학회지

Pyoderma gangrenosum has been described in association with a wide variety of disorders, including Crohn's disease, ulcerative colitis, myeloproliferative disease, monoclonal gammopathy, and Behcet's disease. Herein, we report two cases of pyoderma gangrenosum associated with Crohn's disease. The first case was a 24-year-old female who presented with multiple, necrotizing ulcers on the scalp, which is a rarely affected site. The other case was a 30-year-old female who presented with erythema nodosum on the lower leg initially, and subsequent rapidly-progressive ulcerating lesions then developed at the previous biopsy and intravenous injection sites. In both cases, the colonoscopic findings were consistent with Crohn's disease. The lesions improved with a combined therapy of systemic steroids, sulfa drugs and topical 0.03% tacrolimus ointment.

A Case of Papuloerythroderma of Ofuji which Responded to Treatment with Cyclosporine / 대한피부과학회지

Papuloerythroderma of Ofuji is an uncommon dermatological disorder of unknown etiology and is characterized by a pruritic eruption of widespread confluent papules in vast sheets over the skin, but spares the skin folds (the so-called 'deck-chair' effect). We present a case of a patient with papuloerythroderma of Ofuji of unknown cause. Treatment with oral and topical corticosteroids, antihistamines, and narrow-band UVB phototherapy proved to be ineffective in helping the condition but considerable clinical improvement was obtained with cyclosporine.

Therapeutic Effects of Sclerotherapy of Venous Lake on the Lip / 대한피부과학회지

BACKGROUND: Although venous lake is asymptomatic, treatment is usually performed for cosmetic purposes or to prevent bleeding after trauma. The treatment is diverse and includes surgical excision, compression and cryotherapy. Above all, sclerotherapy is a useful and effective procedure for the treatment of venous lake on the lip. OBJECTIVE: This study was undertaken to assess the effectiveness and complications of the sclerotherapy of venous lake on the lip. METHODS: Fifteen lesions from eleven patients with venous lake on the lip were treated with sclerotherapy using sodium tetradecyl sulfate, detergent sclerosant. According to the size of lesions, the volume of infused solution was varied and the effectiveness of treatment was evaluated after four weeks. RESULTS: After a single treatment, fourteen of the fifteen lesions(93.3%) were cleared completely. The remaining lesion was treated one additional time. There were no reported complications during treatment. CONCLUSION: Sclerotherapy is highly effective and safe for the treatment of venous lake on the lip and may be a promising treatment option.

Revaluation of the Hutchinson's Sign / 대한피부과학회지

BACKGROUND: The appearance of skin lesions at the dermatome of the nasociliary nerve in herpes zoster involving the ophthalmic nerve (Hutchinson's sign) was associated with an increased incidence of ocular complications. OBJECTIVE: This study is aimed to revaluate the clinical usefulness of the original concept of Hutchinson's sign in herpes zoster involving the ophthalmic nerve. METHODS: A total of 70 patients with herpes zoster, involving the ophthalmic nerve, were enrolled in this study at the medical center, Daegu Catholic University from December 2004 to July 2006. Statistical analysis using chi-sqaure test in verified the relationship between the clinical parameters and the development of ocular lesions (p<0.05). RESULTS: Statistical analysis showed that the presence of underlying disease, severity of pain, severity of skin lesions and Hutchinson's sign were the predictive factors of the development of ocular lesions. A strong relationship formed between the Hutchinson's sign and the development of ocular lesions [Relative risk: 6.769 (Confidence interval 95%: 2.310~19.838)]. CONCLUSION: Hutchinson's sign may be a useful predictive factor in the development of ocular lesions in the herpes zoster involving the ophthalmic nerve.

Generalized Actinic Granuloma with Ocular Involvement,Subsequent Development of Temporal Arteritis / 대한피부과학회지

A 63-year-old Korean man presented with generalized, asymptomatic, discrete papules and coalescent annular plaques for one year. Interestingly, the patient complained of conjunctival congestion, concurrently with aggravation of the skin lesion. Histopathologic findings of the skin lesion and conjunctiva revealed giant cells engulfing fragmented elastic fibers, and a diagnosis of actinic granuloma with ocular involvement was made. Ten months later, the patient revisited with a two-week history of bilateral temporal headache, neck pain, intermittent jaw claudication, and blurred vision. Biopsy of the temporal artery confirmed the clinical diagnosis of temporal arteritis. Both actinic granuloma and temporal arteritis show similar pathologic process, and this case supports the hypothesis that actinically degenerated elastic tissue is likely to be the antigenic basis of actinic granuloma of the skin and temporal arteritis.

A Case of Palisaded Neutrophilic and Granulomatous Dermatitis (Rheumatoid Papule) / 대한피부과학회지

Palisaded neutrophilic and granulomatous dermatitis is a newly described disease associated with connective tissue disorders, such as rheumatoid arthritis or lupus erythematousus. Cases associated with rheumatoid arthritis are also termed rheumatoid papules. We report a 27-year-old woman who presented with two erythematous, tender papules on her left elbow. She had rheumatoid arthritis and was being treated with an oral steroid, methotrexate and nonsteroidal antiinflammatory drugs. Histopathologic examination showed degenerative collagen with basophilic fibrinoid materials and neutrophils surrounded by palisaded epithelioid cells in the upper dermis.

A Case of CREST Syndrome with Extensive Calcinosis Cutis / 대한피부과학회지

CREST syndrome is an indolent form of systemic sclerosis and refers to the manifestations of calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasias. We report a typical case of CREST syndrome in a 67-year-old woman, who presented with extensive, hard, calcified nodules and plaques on her shins, fingers, pelvis, and shoulder.

A Case of Genital Porokeratosis / 대한피부과학회지

We report a case of 45 year old man with a porokeratosis of Mibelli on his scrotum. He presented with 4 year history of an annular pruritic skin lesion on his scrotum. The skin lesion showed an initial rapid growth, but then stabilized without further change. Histologic examination revealed a typical cornoid lamella consisting of packed parakeratotic cells. Porokeratosis in the genital area is rare, but can occur in a generalized form with genital area involvement or a localized form confined to the genital area.

Poliosis Circumscripta Associated with Halo Nevus of the Scalp / 대한피부과학회지

Poliosis circumscripta describes a localized patch of white hair due to deficiency of melanin in the hair follicles. It is a feature of various conditions such as piebaldism, Vogt-Koyanagi-Harada syndrome, tuberous sclerosis, vitiligo, recent herpes zoster infection, or overlying a scalp neurofibroma. We report a rare case of poliosis circumscripta associated with halo nevus of the scalp. A 24-year-old woman presented with a 10 year history of an asymptomatic, pinkish nodule on the scalp which had overlying poliosis. On histopathological examination, dermal nevus cells were observed and the hair follicles of the depigmented patch were found to be devoid of pigment.

A Case of Facial Lichen Striatus Improved with Topical Tacrolimus / 대한피부과학회지

A 31-year-old woman presented with 2 year history of multiple, pinhead-sized erythematous papules, which had become coalescent in linear arrangement from the forehead to the left nasal ala. Histopathologically, the lesion showed hyperkeratosis, spongiosis and inflammatory cell infiltration around the skin appendages, and was therefore diagnosed as facial lichen striatus. The patient had been treated with an intermittent topical steroid application for about two years, but this had not been effective. However, application of 0.03% tacrolimus ointment showed dramatic improvement.

Cutaneous Angiomyolipoma

Angiomyolipoma is a benign tumor, almost exclusively of the kidney, that is often associated with tuberous sclerosis. Cutaneous location is extremely rare. We report a case of cutaneous angiomyolipoma which occurred on the retroauricular area. A 57-year-old man presented with an asymptomatic mass on the retroauricular area. Although the clinical similarity to an epidermal or pilar cyst was striking, the histopathologic picture was distinctive. The tumor was a well-circumscribed subcutaneous mass composed of a mixture of smooth muscle, vascular spaces, and mature fat covered by a thin fibrous membrane.

A Case of Immediate Umbilical Reconstruction after Surgical Excision of Keloid / 대한피부과학회지

The umbilicus is an important aesthetic component of the abdomen. Surgical procedures for omphalocele, gastroschisis, urachal cyst, and various benign or malignant tumors of the umbilical area can result in the absence of the umbilicus. Loss of the umbilicus can be an embarrassing deformity, and several methods have been used to reconstruct umbilicus, with mixed results. A 66-year-old male presented with a large mass measuring 4 x 4 cm on his umbilicus. The mass, histopathologically confirmed as keloid, developed after moxa cautery 13 years ago. Complete surgical excision resulted in a large defect, and immediate umbilical reconstruction with purse-string suture technique was done. The patient was seen at follow-up 6 months later, and the umbilicus had a satisfactory appearance.

A Case of Neonatal Tinea Capitis / 대한의진균학회지

Tinea capitis in the neonatal period is extremely rare. To our knowledge, there have been only a few reports of neonatal tinea capitis in the Korean dermatologic literature. We report an additional case of neonatal tinea capitis caused by Microsporum canis. The patient was successfully treated with oral griseofulvin.

Mycological Results after Antifungal Treatment of Toenail Dermatophytosis / 대한의진균학회지

BACKGROUNDS: Toenail dermatophytosis is a common disease caused by dermatophytes. As it may cause not only a cosmetic disfigurement but also the physical, psychological, and social limitations, the need for the treatment has been increased. Recently, itraconazole and terbinafine have been popularly used with less serious side effects than before. OBJECTIVE: We performed a retrospective study to observe the mycological results of antifungal therapy after the treatment of toenail dermatophytosis for 12 weeks. METHOD: The study population consisted of 169 patients with toenail dermatophytosis in Catholic Skin Clinic from June, 2003 to October, 2005. RESULTS: Threre was no significant difference in mycological cure rate between the oral itraconazole group and the oral terbinafine group (52.2% vs 52.0%; p=0.985). Mycological cure rate of the oral terbinafine with 5% amorolfine nail lacquer group was insignificantly higher than that of the oral itraconazole with 5% amorolfine nail lacquer group (55.6% vs 40.6%; p=0.309). There were no significant difference between the different age groups, sexes, and cultured organisms. CONCLUSION: In toenail dermatophytosis, both of the oral itraconazole therapy and the oral terbinafine therapy are very effective and there was no significant difference in the mycological results after the 12 weeks therapy of toenail dermatophytosis.

A Case of Neonatal Lupus Erythematosus / 대한피부과학회지

Neonatal lupus erythematosus is a rare disorder caused by the transplacental passage of maternal autoantibodies, which result in congenital heart block or cutaneous eruptions similar to lesions of subacute cutaneous lupus erythematosus. We report a case of a 29 day-old-male infant who presented with multiple, targetoid lesions with an edematous margin on the scalp, face, neck, and extremities. His serological tests revealed high titers of anti-La/SSB and antinuclear antibodies. His healthy mother also showed the same high titer of antibodies. Yet, the anti-Ro/SSA antibodies were negative in both of them.

A Case of Aplasia Cutis Congenita after Methimazole Exposure during Pregnancy / 대한피부과학회지

Aplasia cutis congenita is a rare congenital defect in which localized or widespread areas of the skin are singly or multiply absent or already scarred at birth. Multiple etiologies have been suggested for the cause, however, methimazole exposure during pregnancy has rarely been postulated as the cause of aplasia cutis congenita. We report a case of an infant with scalp aplasia cutis congenita, whose thyrotoxic mother was treated with methimazole during the first 9 weeks of gestation. The casual relationship between the drug and the skin defect is still a matter of debate, therefore, propylthiouracil treatment appears to be preferable to methimazole during the fertile period.