Occasionally, patients with gastrointestinal Crohn's disease (CD) develop granulomatous skin lesions at sites remote from the gastrointestinal tract, separated from other ulcerations by normal skin, a phenomenon that has been referred to as metastatic cutaneous CD. Although metastatic CD of the vulval region has been often reported in English literature, we could not find such cases with family history. We report a case of vulval CD occurring in siblings.
Crohn Disease* ; Gastrointestinal Tract ; Humans ; Siblings* ; Skin ; Ulcer ; Vulva*

A 28-year-old woman had a 13-month history of skin-colored, well-circumscribed, hyperkeratotic plaques on both heels. Histological examination showed hyperkeratosis and acanthosis in the epidermis. Special stain for elastic tissue revealed marked fragmentation, diminution and thickening of elastic fibers in the dermis. We report a rare case with the lesions of acrokeratoelastoidosis on both heels.
Adult ; Dermis ; Elastic Tissue ; Epidermis ; Female ; Heel ; Humans

Fordyce's disease is a condition known as ectopically located sebaceous glands on the vermilion borders of the lips and oral mucosa. Clinically, it is groups of minute, yellowish, globoid macules and papules. Histologically, it is characterized by sebaceous glands not associated with hair follicles. We report on a 40-year-old man with Fordyce's disease showing particularly wide distribution on the buccal mucosa and upper lip.
Adult ; Hair Follicle ; Humans ; Lip ; Mouth Mucosa ; Sebaceous Glands

Congenital melanocytic nevus(CMN) constitute a well-known risk factor in the development of malignant melanoma, but melanoma developing in newborn and infants are extremely rare. We describe a case of proliferating nodules within CMN at the age of 13 months. Like our case it is difficult to manage the proliferating lesions within CMN in infants. So we carefully suggest the indications of preventive excision when proliferating lesions occur within CMN as follows; 1) preventive excision is postponed until the age of two when the proliferating lesions are slowly growing, 2) surgical excision is needed when the lesions are rapidly growing exceeding 1 cm in size even though it is before the age of two.
Humans ; Infant ; Infant, Newborn ; Melanoma ; Nevus, Pigmented* ; Risk Factors

We report 3 cases of unusual cutis marmorata telangiectatica congenita (CMTC). The ages of the first two cases of CMTC were premature babies, born at intrauterine pregnancy of 31 weeks and 34 weeks. the other patient was a 45-year old female. Compared to the age of other cases reported in the literature our patients ages are unusual. It is not surprising that the first two cases of premature babies had typical signs because CMTC is a congenital disorder, usually seen at birth, but the fact that the skin lesion of CMTC appeared already in the early third trimester may provide some clues to the pathogenesis of CMTC. The third case seems to be very rare because most reported cases show that the skin lesion usually disappear gradually over a period of months to years. The site and size of the lesion in the last case was told to have been fixed for 45 years without any change.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Female ; Humans ; Parturition ; Pregnancy ; Pregnancy Trimester, Third ; Skin

Childhood granulomatous perioral dermatitis is a distinctive granulomatous process of unknown cause with a benign and self-limited course and no associated systemic manifestations. We herein report a case of a 12-year-old Korean girl with multiple, discrete, monomorphic, flesh-colon, papular eruptions on the perioral, periocular, and perinasal areas of 7-month duration. Histopathologic examination revealed upper dermal and perifollicular granulomatous infiltrate.
Child ; Dermatitis, Perioral* ; Female ; Humans

Trichilemmal horn(trichilemmal keratosis) is a rare keratinizing tumor that resembles a cutaneous horn. Histologically, it is characterized by an abrupt maturation of keratinocytes into lamellar keratin without the formation of a granular layer. We describe a case of a trichilemmal horn on the right cheek of a 78-year-old woman.
Aged ; Animals ; Cheek ; Female ; Horns* ; Humans ; Keratinocytes

Multiple dermatofibromas have been reported in patients with various autoimmune disorders such as systemic lupus erythematosus in receiving immunosuppressive therapy. We report a case of systemic lupus erythematosus in a 30-year-old woman who developed 23 dermatofibromas while she was treated with systemic corticosteroid. The mechanism for the development of multiple dermatofibromas in the setting of immune disturbance remains unclear. The altered immune system may play a role in the pathogenesis of this cutaneous condition.
Adult ; Female ; Histiocytoma, Benign Fibrous* ; Humans ; Immune System ; Lupus Erythematosus, Systemic*

BACKGROUND: Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders and is characterized by abnormalities in multiple tissues derived from the neural crest. OBJECTIVES: We analyzed the presence of mutations of NF1 gene in unrelated 56 Korean NF-1 patients. METHODS: Mutations were detected by polymerase chain reaction, single strand conformational polymorphism analysis and direct DNA sequencing. RESULTS: We found five different kinds of mutations in the NF1 gene from 5 out of 56 unrelated Korean NF1 patients. Sequence analysis revealed a nucleotide substitution at codon 1276 of exon 22 (CGA to TGA, R1276X), 4 by insertion at codon 1270 of exon 22 (3809 ins TGGA), a base pair deletion at codon 1398 of exon 24 (4192 del G), 4 by deletion at codon 1638 of exon 28 (4914 del CTCT), and a base pair substitution at codon 1947 of exon 31 (CGA to TGA, R1947X). All of these mutations resulted in premature termination of the mutant alleles. CONCLUSION: Results showed that common consequences of NF1 mutations are introduction of a premature stop codon, and these mutant genes may encode truncated forms of neurofibromin.
Alleles ; Base Pairing ; Codon ; Codon, Nonsense ; Exons ; Genes, Neurofibromatosis 1* ; Humans ; Neural Crest ; Neurofibromatoses* ; Neurofibromatosis 1* ; Neurofibromin 1 ; Polymerase Chain Reaction ; Sequence Analysis ; Sequence Analysis, DNA

BACKGROUND: Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease of cornification which presents as severe thickening of the palms and soles with prominent epidermolytic hyperkeratosis pathologically. Recent studies have shown that EPPK is caused by mutations in the keratin 9 (K9) gene which is expressed essentially only in the palms and soles. Previously, We have reported that patients in one large pedigree of EPPK have an R162W substitution in the K9 protein. In this pedigree, two women whose husbands are both EPPK patients had become pregnant. OBJECTIVE: Since both women were concerned about this genetic disorder, we have performed prenatal diagnosis by biopsy analysis of chorionic villi tissue. METHODS: Chorionic villi biopsies were performed at 12 weeks gestation. Since the skin lesions are strictly confined to the palms and soles of the babies, the prenatal diagnosis of EPPK by ultrastructural analysis of fetal skin biopsy or amniotic fluid cells is highly problematic. Polymerase chain reaction amplification of specific allele (PASA) assay and direct DNA sequencing analyses were performed whether the fetuses carried mutant allele of K9 gene. RESULTS: PASA assay and direct DNA sequencing analyses showed that one fetus was normal, but the other fetus carried the abnormal allele. Subsequently, the mother of the unaffected fetus delivered a normal child, but the mother of the affected fetus terminated the pregnancy. CONCLUSION: We describe the analysis of the K9 mutation in the two fetuses at risk for EPPK. We believe that this is the first report of prenatal diagnosis for EPPK. But, we have to think about the ethical problems before we decide to perform the prenatal diagnosis of any kind of skin diseases.
Alleles ; Amniotic Fluid ; Biopsy ; Child ; Chorionic Villi ; Chorionic Villi Sampling ; Female ; Fetus ; Humans ; Hyperkeratosis, Epidermolytic ; Keratin-9 ; Keratoderma, Palmoplantar, Epidermolytic* ; Mothers ; Pedigree* ; Polymerase Chain Reaction ; Pregnancy* ; Prenatal Diagnosis* ; Sequence Analysis, DNA ; Skin ; Skin Diseases ; Spouses