Somatic Mosaicism for a "Lethal" GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement.

abstract：:Alopecia areata (AA) involves the immune-related destruction of hair follicles, resulting in patches of complete hair loss, most often on the scalp. The topical sensitizer squaric acid dibutylester (SADBE) is a popular treatment option given its low side-effect profile, hair regrowth potential, and lack of cross-react...

journal_title：Pediatric dermatology

authors： Chen CA,Carlberg V,Kroshinsky D

更新日期：2017-01-01 00:00:00

abstract：:We report a case of lichenoid sarcoidosis in a 3-year-old girl. She had numerous discrete skin-colored or erythematous, infiltrated follicular papules on the buttocks and extremities since 2 months of age. Histopathologic examination showed follicular plugging and an upper dermal granulomatous infiltrate of epithelioi...

journal_title：Pediatric dermatology

authors： Seo SK,Yeum JS,Suh JC,Na GY

更新日期：2001-09-01 00:00:00

abstract：:Acral peeling skin syndrome (APSS) is a clinically and genetically heterogeneous disorder. We used whole-exome sequencing to identify the molecular basis of APSS in a consanguineous Jordanian-American pedigree. We identified a homozygous nonsense mutation (p.Lys22X) in the CSTA gene, encoding cystatin A, that was conf...

journal_title：Pediatric dermatology

authors： Krunic AL,Stone KL,Simpson MA,McGrath JA

更新日期：2013-09-01 00:00:00

abstract：:Diaper dermatitis, an acute inflammation of the skin in the diaper area, is the most common dermatologic disorder of infancy. This placebo-controlled, randomized, double-blind, parallel-group trial compared the efficacy and safety of miconazole nitrate 0.25% in a zinc oxide/petrolatum base with that of the ointment ba...

journal_title：Pediatric dermatology

authors： Concannon P,Gisoldi E,Phillips S,Grossman R

更新日期：2001-03-01 00:00:00

abstract：:Normolipemic plane xanthoma normally occurs in adults. We report the atypical instance of a 9-year-old boy who developed disseminated, flat, yellow-brown plaques up to 2 to 3 cm without any complaints. The histology showed the hallmarks of xanthoma, including the presence of CD68+ foam cells and Touton giant cells. No...

journal_title：Pediatric dermatology

authors： Hofmann M,Zappel K,Trefzer U,Audring H,Albrecht-Nebe H,Sterry W,Blume-Peytavi U

更新日期：2005-03-01 00:00:00

abstract：:Recently an unusual chronic dermatosis, considered a new clinical entity and closely resembling psoriasis, has been described in the literature under the term psoriasiform acral dermatitis (PAD). It is characterized by cutaneous involvement of the digits without nail dystrophy. We describe three young patients, ages 6...

journal_title：Pediatric dermatology

authors： Patrizi A,Bardazzi F,Neri I,Fanti PA

更新日期：1999-11-01 00:00:00

abstract：:Prurigo pigmentosa (PP) is a rare inflammatory skin disease. Neutrophil-mediated inflammation is considered to be responsible for the etiopathogenesis of PP. We consider that colchicine may be an effective agent in the treatment of PP since it exerts an antiinflammatory effect by inhibiting neutrophil chemotaxis. Furt...

journal_title：Pediatric dermatology

authors： An I,Ucmak D,Ibiloglu I,Demir V,Akdeniz S

更新日期：2018-05-01 00:00:00

abstract：:We describe three teenage siblings with confluent and reticulated papillomatosis, all presenting during a 6-month period. Two of the three patients had confirmed tinea versicolor, with positive potassium hydroxide scrapings, in association with this entity. This is the largest series of siblings with confluent and ret...

journal_title：Pediatric dermatology

authors： Stein JA,Shin HT,Chang MW

更新日期：2005-07-01 00:00:00

abstract：BACKGROUND:Acrodermatitis acidemica is a recently proposed term for the rash that is similar to acrodermatitis enteropathica, which is encountered in organic acidemias. However, acrodermatitis enteropathica-like eruption may be seen in metabolic disorders other than organic acidemias. OBJECTIVE:The aim of this study w...

journal_title：Pediatric dermatology

authors： Tabanlioğlu D,Ersoy-Evans S,Karaduman A

更新日期：2009-03-01 00:00:00

abstract：:The common manifestations of atopic dermatitis (AD) appear sequentially with involvement of the cheeks in infancy, flexural extremities in childhood, and hands in adulthood. Although less common clinical manifestations are well described, they have not been the subject of epidemiologic studies to describe their preval...

journal_title：Pediatric dermatology

authors： Julián-Gónzalez RE,Orozco-Covarrubias L,Durán-McKinster C,Palacios-Lopez C,Ruiz-Maldonado R,Sáez-de-Ocariz M

更新日期：2012-09-01 00:00:00

abstract：:Phacomatosis pigmentovascularis is characterized by coexistent extensive cutaneous vascular (capillary) and pigmentary anomalies. We describe a 2-month-old infant presenting with classic features of phacomatosis pigmentovascularis 2b (phacomatosis cesioflammea). He was also found to have hitherto unreported associatio...

journal_title：Pediatric dermatology

authors： Singal A,Mittal H,Aggarwal A,Das S,Manchanda S

更新日期：2018-05-01 00:00:00

abstract：:Pemphigus refers to a group of potentially fatal blistering skin diseases that are often due to the deleterious effects of autoantibodies directed against desmosomal antigens. Although desmogleins have been mainly implicated as autoantigens in pemphigus, a steadily growing body of evidence suggests that other desmosom...

journal_title：Pediatric dermatology

authors： Geller S,Gat A,Harel A,Mashiah J,Zeeli T,Eming R,Ishii N,Hertl M,Hashimoto T,Sprecher E

更新日期：2016-01-01 00:00:00

abstract：:Bullous dermolysis of the newborn is a dominant or recessive inherited subtype of dystrophic epidermolysis bullosa characterized by the tendency to spontaneously stop blistering within the first months of life. Here we report two siblings with bullous dermolysis of the newborn who were born prematurely and have a nove...

journal_title：Pediatric dermatology

authors： Boccaletti V,Zambruno G,Castiglia D,Magnani C,Tognetti E,Fabrizi G,Cortelazzi C,Pagliarello C,Di Nuzzo S

更新日期：2015-03-01 00:00:00

abstract：:Trichothiodystrophy is characterized by sparse, short, sulfur-deficient hair. Numerous symptom complexes have been described in which the hair abnormality represents a constant feature. We report a boy with trichothiodystrophy, ichthyotic skin changes, onychodystrophy, chronic neutropenia, osteosclerosis, hypothyroidi...

journal_title：Pediatric dermatology

authors： Hersh JH,Klein LR,Joyce MR,Hordinsky MK,Tsai MY,Paller A,Hyzer R,Zax RH

更新日期：1993-06-01 00:00:00

abstract：:Computerized tomography (CT) of the brain was performed in 10 of 11 consecutive infants with neonatal lupus erythematosus (NLE) (five boys and six girls). Ten of the 11 infants had brain neurosonography. Nine of 10 infants had abnormal CT scans. There was diffuse, markedly reduced attenuation of the cerebral white mat...

journal_title：Pediatric dermatology

authors： Prendiville JS,Cabral DA,Poskitt KJ,Au S,Sargent MA

更新日期：2003-01-01 00:00:00

abstract：OBJECTIVES:To compare prevalence and severity of diaper dermatitis (DD) in infants and toddlers (babies) across three countries (China, USA, and Germany), including diapered skin measures and caregiver practices. METHODS:A cross-sectional study of 1791 babies (~600 from each country) was recruited at each clinical sit...

journal_title：Pediatric dermatology

authors： Carr AN,DeWitt T,Cork MJ,Eichenfield LF,Fölster-Holst R,Hohl D,Lane AT,Paller A,Pickering L,Taieb A,Cui TY,Xu ZG,Wang X,Brink S,Niu Y,Ogle J,Odio M,Gibb RD

更新日期：2020-01-01 00:00:00

abstract：:We treated a 5-year-old boy with clear-cell hidradenoma of the forearm. Our literature search found only one previous report of this disease occurring during the first decade of life, and the present patient is the first with involvement of the limbs. This presentation demonstrates that clear-cell hidradenoma needs to...

journal_title：Pediatric dermatology

authors： Ozawa T,Fujiwara M,Nose K,Muraoka M

更新日期：2005-09-01 00:00:00

abstract：:Although lentigines are usually benign, they can be associated with a number of genetic syndromes in which neoplasms and other multi-system pathological processes occur. Here, we report the case of a 6-year-old girl who presented with atypical lentiginosis and hyperpigmentation caused by a de novo genetic variant in t...

journal_title：Pediatric dermatology

authors： Tran AK,Pearce A,López-Sánchez M,Pérez-Jurado LA,Barnett C

更新日期：2019-11-01 00:00:00

abstract：:While the primary etiologic agent of tinea capitis in the United States has varied over the past century, the last several decades have been marked by a predominance of infection with Trichophyton tonsurans. Related anthropophilic organisms commonly isolated in other dermatophytoses are infrequently observed in tinea ...

journal_title：Pediatric dermatology

authors： Abdel-Rahman SM,Penny J,Alander SW

更新日期：2004-01-01 00:00:00

abstract：:Cutaneous histiocytosis may take two principal forms. It is either a benign proliferative process or a relentless, progressive process with a poor prognosis. In histiocytic medullary reticulosis, histiocytes demonstrate nuclear atypia and the outcome is uniformly fatal. Benign cephalic histiocytosis X causes lesions s...

journal_title：Pediatric dermatology

authors： Roper SS,Spraker MK

更新日期：1985-11-01 00:00:00

abstract：:Loose anagen hair syndrome (LAHS) is an uncommonly reported autosomal dominant hair disorder with incomplete penetrance that primarily affects children but is occasionally seen in adults. LAHS is characterized by the ability to easily and painlessly extract unsheathed anagen hairs from the scalp with gentle traction. ...

journal_title：Pediatric dermatology

authors： Dey V,Thawani M

更新日期：2013-09-01 00:00:00

abstract：:Acute genital ulcers rarely occur in nonsexually active young girls. When present, they can cause significant physical and emotional distress for the patient and her parents, and prompt an evaluation for sexual abuse and sexually transmitted diseases. With this review, we aim to further characterize acute genital ulce...

journal_title：Pediatric dermatology

authors： Rosman IS,Berk DR,Bayliss SJ,White AJ,Merritt DF

更新日期：2012-03-01 00:00:00

abstract：:Lipoblastoma is a rare neoplasm of embryonal adipose tissue most often encountered on the trunk and extremities of children. It commonly presents as a painless subcutaneous soft tissue mass, but there are other unique clinical presentations that are important to recognize. The differential is broad and includes sarcom...

journal_title：Pediatric dermatology

authors： Shen LY,Amin SM,Chamlin SL,Mancini AJ

更新日期：2017-03-01 00:00:00

abstract：:We hereby report a 2-year-old boy who presented with a peculiar combination of hyperpigmented and hypopigmented skin lesions along the lines of Blaschko, sharply demarcated at the midline, both on the anterior and posterior trunk. Although combinations of hyperpigmented and hypopigmented skin lesions distributed along...

journal_title：Pediatric dermatology

authors： Thapa R,Dhar S,Malakar R,Chakrabartty S

更新日期：2007-09-01 00:00:00

abstract：BACKGROUND/OBJECTIVES:Bullous impetigo (BI) is a common dermatologic condition, particularly in children, yet confusion regarding its diagnosis and treatment persists. This study measured pediatricians' ability to diagnose and appropriately treat BI and explored factors that might influence pediatricians' accuracy in m...

journal_title：Pediatric dermatology

authors： Simkin DJ,Grossberg AL,Cohen BA

更新日期：2016-11-01 00:00:00

abstract：:Striated muscle hamartoma is a rare entity which was described only recently. It is a congenital malformation characterized by the presence of striated, mature muscle fibers in the reticular dermis and hypodermis. We describe a striated muscle hamartoma of the perianal region in a female infant associated with an hema...

journal_title：Pediatric dermatology

authors： Scrivener Y,Petiau P,Rodier-Bruant C,Cribier B,Heid E,Grosshans E

更新日期：1998-07-01 00:00:00

abstract：:Dermal mucinosis occurred in a 3-month-old and persisted for six years. The features suggest is represents a novel type of childhood mucinosis. ...

journal_title：Pediatric dermatology

authors： Calza AM,Masouyé I,Saurat JH

更新日期：1994-09-01 00:00:00

abstract：:Cerebriform intradermal nevus is a rare form of cutis verticis gyrata. Clinically it manifests as a scalp deformity resembling the surface of the brain, with cerebriform morphologic characteristics. Degeneration into malignant melanoma has been reported. Herein, a cerebriform intradermal nevus of the scalp in a 7-year...

journal_title：Pediatric dermatology

authors： Yazici AC,Ikizoglu G,Baz K,Polat A,Ustunsoy D

更新日期：2007-03-01 00:00:00

abstract：:We report an 8-year-old boy who developed dystrophic calcinosis cutis that occurred following trauma. Multiple abrasions were observed in the inguinal folds after a soccer game. Subsequently, multiple papules with soft centers and white particles appeared in the same area. A biopsy specimen showed calcinosis cutis wit...

journal_title：Pediatric dermatology

authors： Larralde M,Giachetti A,Cáceres MR,Rodríguez M,Casas J

更新日期：2005-05-01 00:00:00

abstract：:Early recognition of the hyperlipoproteinemias is a crucial element in preventing premature coronary artery disease. Xanthomas provide a cutaneous marker of the silent, underlying pathology. Identifying them, and understanding their relation to the inherited hyperlipoproteinemias may facilitate early diagnosis of hype...

journal_title：Pediatric dermatology

authors： Maher-Wiese VL,Marmer EL,Grant-Kels JM

更新日期：1990-09-01 00:00:00