摘要:

Abstract:Late cutaneous signs of incontinentia pigmenti (IP) are often subtle and misdiagnosed. We focus on these somewhat confusing clinical markers in a family, and on the genotypic diagnosis based on DNA analysis. An infant was born with a typical IP rash. Dermatologic examination of the women In her family revealed that her mother, her maternal aunt, and her grandmother had subtle skin signs reminiscent of IP. The four family members proved to be Informative for DNA markers in the Xq28 region. Familial cases of IP are sometimes missed due to the lack of recognition of some late skin signs that are not always hyperpigmented streaks. Subtle, faint, hypochromic or atrophic lesions in a linear pattern may occur. Thus an accurate diagnosis of the women in a particular family also requires anamnestic data and recognition of extracutaneous anomalies. When a clinical diagnosis has been made, DNA marker analysis allows us to offer a prenatal diagnosis with minimal risk of error In case of further pregnancy. However, early testing of chorionic villus samples does not allow one to predict the severity of the disease in an affected fetus.

ISSN:0736-8046    

DOI:10.1111/j.1525-1470.1995.tb00135.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Abstract:We report on an asymmetric maculopapular exanthem of early childhood. One hundred eighty seven patients (111 girls, 76 boys) were examined over a four‐year period, mainly in winter and spring. The first skin lesions appeared on the trunk or in the large flexures of the limbs. They spread centrifugally, often to the contralateral side, over two to four weeks, and disappeared with slight Itching and moderate desquamation within another two to four weeks. Virologic studies were carried out in 34 cases; parainfluenzavirus 2, parainfluenzavirus 3, and adenoviral infection were diagnosed in two patients each. The chances of a causal relation between the viral infection and the skin symptoms were slight; only an incidental connection is likely to exist between the skin disorders and the viral infectio

ISSN:0736-8046    

DOI:10.1111/j.1525-1470.1995.tb00136.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Abstract:A new patient with CHILD syndrome (congenital hemidysplasia, ichthyosiform erythroderma, and limb defects), the thirtieth in the literature, was observed for over three years. Initially, the right‐sided lesion spared the breast area. At 10 months of age the trunk lesion extended to cover the entire area of the right chest At age 20 months the patient developed linear, bandlike, keratotic, brown‐black lesions on her teft thigh that subsided within six weeks, leaving a slight hyperpigmentation. This patient was studied by routine histologic methods as well as with markers of keratinlzation and electron microscopy. In hematoxylin and eosinstained sections, parakeratosis and orthokeratosis atternated. In some parakeratotlc areas, targe granular cells, and in others, ghost granular cells, were present. The latter showed basophilic cytoplasm, and palestaining or vacuolated nucleus and were seen either above the normal granular layer or without it. Although regional variations existed, basat cell‐type keratins as recognized by AE1 continued to be expressed in suprabasal layers. Filaggrin‐ and Involucrin‐positive layers were expanded, particularly the latter, down to the lower prickle cell layer. Ultrastructurally, numerous lamellar or membranous structures were found in upper layers of the epidermis, both intracellulary and intercellularly. Normal cementsomes coexisted with these abnormal lamellar structures, and it was thought that the latter represent modified cementsomes because the discharge of those from the cell periphery was Often

ISSN:0736-8046    

DOI:10.1111/j.1525-1470.1995.tb00137.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Abstract:Dubowitz syndrome is a rare autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, microcephaly, moderate mental retardation, typical craniofacial anomalies, and eczematous skin lesions. We report a case of Dubowitz syndrome associated wtth ichthyosiform skin changes.

ISSN:0736-8046    

DOI:10.1111/j.1525-1470.1995.tb00138.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Abstract:Fraternal twins of Malay descent had the Rothmund‐Thomson syndrome. This is a rare, autosomal recessive disorder characterized by photosensitivity, poikiloderma, short stature, skeletal defects, and juvenile cataracts. This is the first case report of the syndrome from southeast Asi

ISSN:0736-8046    

DOI:10.1111/j.1525-1470.1995.tb00139.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Abstract:A 9‐year‐old girl newly diagnosed with systemic lupus erythematosus (SLE) developed a localized linear papulovesicular eruption over the right dorsal hand and ulnar forearm. The skin findings were clinically suggestive of herpes zoster, lichen striatus, or lichen planus‐lupus erythematosus overlap. However, histologic, immunofluorescent, Immunoelectron microscopic, and immunobiot studies revealed findings compatible with bullous SLE. Our patient is noteworthy because she is the first one reported with bullous SLE presenting in a localized linear pattern. She is also the second‐youngest reported patient with bull

ISSN:0736-8046    

DOI:10.1111/j.1525-1470.1995.tb00140.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Abstract:There are few case reports of congenital melanocytic nevi affecting the oral mucosa. We report the clinical and histologic features of an Intraoral melanocytic lesion that in our opinion meets the criteria for the diagnosis.

ISSN:0736-8046    

DOI:10.1111/j.1525-1470.1995.tb00141.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Abstract:Infantile (desmoid‐type) fibromatosis is an uncommon, locally aggressive tumor that is seldom reported in the dermatologic literature. We describe a case of Infantile (desmoid‐type) fibromatosis in a 2‐year‐old girl. Surgical disposition entailed amputation of the affected digit Our report is intended to heighten awareness of this potentially fatal tumor, and emphasize the importance of timely diagnosis and tr

ISSN:0736-8046    

DOI:10.1111/j.1525-1470.1995.tb00142.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Abstract:A 6‐week‐old girl developed bilateral auricular swelling in the absence of trauma. Clinical and histologic findings were consistent with pseudocyst of the auricle. This case is unusual given the age and sex of the patient and the bilateral presentation of the pseudocy

ISSN:0736-8046    

DOI:10.1111/j.1525-1470.1995.tb00143.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY

摘要:

Abstract:Spitz nevus is most commonly a benign solitary lesion. Multiple lesions arranged in clusters (agminated) are very rare. Malignant degeneration has not been reported. Although spontaneous involution may occur, the nevi are frequently treated by surgical excision. We describe two preschool girls with multiple agminated Spitz nevi, and review the current world literature on multiple Spitz nevi.

ISSN:0736-8046    

DOI:10.1111/j.1525-1470.1995.tb00144.x

出版商:Blackwell Publishing Ltd    

年代:1995

数据来源: WILEY