Abstract:
:We report a family affected to the fourth generation by uncombable hair syndrome. This syndrome is characterized by unruly, dry, blond hair with a tangled appearance. The family pedigree strongly supports the hypothesis of autosomal dominant inheritance; some members of the family had, apart from uncombable hair, minor signs of atopy and ectodermal dysplasia, such as abnormalities of the nails. The diagnosis was confirmed by means of extensive scanning electron microscopy. A trial with oral biotin 5 mg/day was started on two young patients with excellent results as regards the hair appearance, although scanning electron microscopy did not show structural changes in the hair. After a 2-year-period of follow-up, hair normality was maintained without biotin, while nail fragility still required biotin supplementation for control.
journal_name
Pediatr Dermatoljournal_title
Pediatric dermatologyauthors
Boccaletti V,Zendri E,Giordano G,Gnetti L,De Panfilis Gdoi
10.1111/j.1525-1470.2007.00385.xsubject
Has Abstractpub_date
2007-05-01 00:00:00pages
E14-6issue
3eissn
0736-8046issn
1525-1470pii
PDE385journal_volume
24pub_type
杂志文章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
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1993.tb00034.x
更新日期:1993-06-01 00:00:00
abstract::We present a case of an infant with severe atopic dermatitis infected with Streptococcus pyogenes who presented with pustules, honey-colored crusts, and punched-out erosions with scalloped borders mimicking eczema herpeticum or eczema coxsackium. We draw attention to this case to highlight the similar clinical appeara...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.13956
更新日期:2019-11-01 00:00:00
abstract::Prurigo nodularis is an uncommon pediatric cutaneous disorder that is associated with intense pruritus. We report a teenager with prurigo nodularis as the presenting sign of stage IIA Hodgkin's disease, primarily in the mediastinum. The pruritus and associated cutaneous lesions resolved with combination chemotherapy d...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1990.tb00670.x
更新日期:1990-06-01 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
pub_type: 杂志文章,评审
doi:10.1111/j.1525-1470.1990.tb00275.x
更新日期:1990-09-01 00:00:00
abstract::We report a child with bilateral congenital triangular alopecia. Shaving the scalp and inserting intravenous cannulas into scalp vessels during the neonatal period was misconstrued by the parents as the cause of hair loss, and resulted in medicolegal implications. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1996.tb00708.x
更新日期:1996-09-01 00:00:00
abstract::Fixed drug eruption (FDE) is manifested as localized, circumscribed, round or oval plaques that characteristically recur in the same site with each use of the offending drug. The drugs most commonly implicated are phenolphthalein, barbiturates, antibiotics, salicylates, contraceptives, and anticonvulsants. FDE can app...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2002.00078.x
更新日期:2002-05-01 00:00:00
abstract::The aim of this report was to present a case of granulomatous lesion on the ventral surface of the tongue in a 9-month-old, healthy, infant girl, caused by the habit of scraping the tongue on mandibular central incisors. Clinical treatment consisted of manual smoothing of the sharp edges of both incisors and excision ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2009.01009.x
更新日期:2009-09-01 00:00:00
abstract::Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a type of skin lymphoma. Pleomorphic T-cells infiltrate the subcutaneous tissue and mimic lobular panniculitis. We report a case occurring in a 12-year-old Chinese boy who presented with multiple indolent erythematous subcutaneous nodules on both extremities wi...
journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
doi:10.1111/pde.12452
更新日期:2015-07-01 00:00:00
abstract::The reported data on the association of kidney and urinary tract malformations with supernumerary nipples are contradictory. We examined 200 children, ages 1 month-16 years, who were being followed because of recurrent urinary tract infection for supernumerary nipples. The patients were divided into two groups: those ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2001.01930.x
更新日期:2001-07-01 00:00:00
abstract::Intralesional injection of bleomycin (BLM) for the treatment of warts resistant to all conventional therapies is of certain interest because of the drug's low toxicity and its efficacy. However, delayed side effects may appear, particularly Raynaud phenomenon. Accordingly, some precautions must be taken in patients wi...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2001.018003249.x
更新日期:2001-05-01 00:00:00
abstract::Cranioectodermal dysplasia is a rare syndrome characterized by craniofacial and skeletal anomalies and ectodermal dysplasia. Life-threatening associated conditions (i.e., kidney failure and abnormal regulation of the parathyroid-bone axis) can also develop. We report a patient whose features are suggestive of an inapp...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2001.01955.x
更新日期:2001-07-01 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
pub_type: 杂志文章,评审
doi:10.1046/j.1525-1470.2003.03014.x
更新日期:2003-01-01 00:00:00
abstract::Familial cold auto-inflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurologic, cutaneous, articular syndrome are related disorders associated with mutations in the CIAS1 gene. They appear to represent a continuum of one disease characterized by IL-1-mediated inflammation. Until recently, these condi...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2007.00343.x
更新日期:2007-01-01 00:00:00
abstract::Skin diseases are common in children. However, only a very few prospective epidemiologic surveys are available in the literature. The present survey was directed at determining the spectrum and pattern of skin diseases of children in Kuwait. A total of 10,000 consecutive new patients were studied; 96% were children of...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.1999.99002.x
更新日期:1999-01-01 00:00:00
abstract::Benzoate allergy may be an overlooked allergen in children and one that may be of increasing importance with its increasing role as a preservative in pediatric personal hygiene formulations. The cases herein report an association with cola and benzoate allergy and discusses the implications of replacement of formaldeh...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12759
更新日期:2016-03-01 00:00:00
abstract::Proteus syndrome is an extremely rare mosaic condition characterized by progressive overgrowth of tissues due to a somatic activating mutation of the AKT1 gene. Distinct cutaneous features, including cerebriform connective tissue nevi, epidermal nevi, vascular malformations, and adipose abnormalities, can alert the de...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12900
更新日期:2016-09-01 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
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2001.01958.x
更新日期:2001-09-01 00:00:00
abstract::Epidermodysplasia verruciformis (EV) manifests early in childhood as pityriasis versicolor (PV)-like macules on sun-exposed sites such as the face. These hypopigmented lesions closely resemble commoner pediatric dermatoses such as PV or pityriasis alba. In this report of two cases, we describe the distinguishing dermo...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.14031
更新日期:2020-01-01 00:00:00
abstract::Eczema action plans (EAPs) are written, customizable documents that guide patients through the self-management of atopic dermatitis. Here, we distributed a survey regarding the use patterns and perceptions of eczema action plans to 1068 members of the Society for Pediatric Dermatology and received 87 responses. Althou...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.13667
更新日期:2018-11-01 00:00:00
abstract::Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder that is caused by a DNA repair defect. It is characterized mainly by skin, eye, and skeletal abnormalities. Cutaneous changes appear at between 3 and 6 months of age and include poikiloderma, photosensitivity, scaling, hyperkeratosis, and disturban...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2001.018003210.x
更新日期:2001-05-01 00:00:00
abstract::Skin prick tests were performed in 12 children with atopic eczema before and after 2 weeks of treatment with topical mometasone furoate and tacrolimus. Both treatments significantly suppressed the allergen wheal size. Mometasone furoate reduced the histamine wheal size as well. Skin prick testing in children treated w...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2008.00651.x
更新日期:2008-03-01 00:00:00
abstract:BACKGROUND:Treatment of palmar and axillary primary focal hyperhidrosis (PFH) in children up to 16 years using thoracoscopic sympathicotomy is supported by scarce evidence. Therefore, this study aimed to summarize the results of our standardized bilateral, one-stage, single-port sympathicotomy (BOSS) in children up to ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.14273
更新日期:2020-09-01 00:00:00
abstract::Systemic sclerosis-polymyositis overlap syndrome is rare in children. Anti-PM/Scl is the most common autoantibody associated with this syndrome. We present a case of systemic sclerosis-polymyositis overlap syndrome in a child with isolated anti-Ku antibodies, an uncommon antibody associated with this rare syndrome. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.14243
更新日期:2020-09-01 00:00:00
abstract::We report an unusual congenital vesiculopustular eruption arising in a neonate as the result of the transient myeloproliferative disorder (TMD) associated with trisomy 21. In this instance, the neonate was phenotypically normal, making the diagnosis more elusive. Initially the lesions were clinically suspicious for he...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.0736-8046.2004.21505.x
更新日期:2004-09-01 00:00:00
abstract::A 40-year-old man and his 6-year-old only son had numerous, firm papulonodular lesions on their faces. Their medical histories were unremarkable and no family consanguinity was recorded. Surgical excision of several lesions was performed on each patient. All the lesions were solid tumors with the characteristic histop...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1995.tb00195.x
更新日期:1995-12-01 00:00:00
abstract::Congenital insensitivity to pain (hereditary sensory and autonomic neuropathy [HSAN] type V) is a rare disorder of pain perception in which pain sensation is absent from birth, with no other neurologic deficits. We report five Saudi patients (three male and two female) age 10 months to 23 years who lacked pain sensati...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2002.00095.x
更新日期:2002-07-01 00:00:00
abstract::Lamotrigine is an anticonvulsant with a broad spectrum of activity that has been approved in the United States for use in adults with either partial or generalized seizures. This drug is being widely prescribed by pediatricians and neurologists because it is effective in children with idiopathic, resistant, generalize...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.1999.99014.x
更新日期:1999-01-01 00:00:00
abstract::Rothmund-Thomson syndrome (RTS) is a genetic disease characterized by developmental abnormalities and poikilodermatous skin changes that appear in infancy. An association with myelodysplastic syndromes is rarely reported in RTS, even though impairment of immune function and recurrent infections are described in the li...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2001.01971.x
更新日期:2001-09-01 00:00:00
abstract::Mutations in the keratinocyte lipid transporter adenosine triphosphate-binding cassette A12 (ABCA12) are known to cause harlequin ichthyosis. More recently, mutations in this gene have been demonstrated to cause other phenotypes within the spectrum of recessive congenital ichthyosis. We report the case of an infant wi...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2011.01695.x
更新日期:2013-11-01 00:00:00
abstract::Throughout history, individuals have had a myriad of dermatologic conditions characterized as chronic pruritic dermatoses. The term atopic dermatitis was not coined until the early 20th century. Many diseases typical of this condition were reported using a variety of eponyms and descriptive terms. Even as the incidenc...
journal_title:Pediatric dermatology
pub_type: 历史文章,杂志文章,评审
doi:10.1111/pde.12853
更新日期:2016-07-01 00:00:00