60 results match your criteria Ulerythema


Dermatological manifestations in Noonan syndrome: A prospective multicentric study of 129 mutation-positive patients.

Br J Dermatol 2018 Nov 12. Epub 2018 Nov 12.

Department of Genetic Biochemistry, Robert-Debré Hospital, AP-HP and University of Paris-Diderot, Paris, France.

Background: Data on dermatological manifestations of Noonan syndrome (NS) remain heterogeneous and based on little dermatological expertise.

Objectives: To describe the dermatological manifestations of NS, compare them with the literature findings, and test for dermatological phenotype-genotype correlations with or without the presence of PTPN11 mutations.

Methods: We performed a large, 4-year, prospective, multicentric, collaborative dermatological and genetic study. Read More

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November 2018
4 Reads

And next… Adnexa: Ulerythema ophryogenes and keratosis pilaris.

Eur J Dermatol 2018 Aug;28(4):566-567

Department of Dermatology and Venereology, Hospital de Santo António dos Capuchos - Centro Hospitalar de Lisboa Central, Alameda de Santo António dos Capuchos, 1169-050 Lisbon, Portugal.

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August 2018
4 Reads

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

Br J Dermatol 2018 Aug 23. Epub 2018 Aug 23.

Department of Clinical Genetics, Arnaud de Villeneuve Hospital, University of Montpellier, Montpellier, France.

Background: Data on dermatological manifestations of cardiofaciocutaneous syndrome (CFCS) remain heterogeneous and almost without expert dermatological classification.

Objectives: To describe the dermatological manifestations of CFCS; to compare them with the literature findings; to assess those discriminating CFCS from other RASopathies, including Noonan syndrome (NS) and Costello syndrome (CS); and to test for dermatological phenotype-genotype correlations.

Methods: We performed a 4-year, large, prospective, multicentric, collaborative dermatological and genetic study. Read More

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August 2018
1 Read

Lichenoid folliculitis: A unifying concept.

J Cutan Pathol 2017 Mar 26. Epub 2017 Mar 26.

Department of Dermatology, Uniformed Services University of the Health Sciences, Los Angeles, Maryland.

Skin diseases presenting with keratotic papules, atrophy, cicatricial alopecia and/or "lichenoid" histopathologic changes have been described under at least 30 names. This family of diseases contains 2 subgroups, largely based on clinical features: keratosis pilaris atrophicans (KPA; including keratosis pilaris atrophicans faciei/ulerythema ophryogenes, atrophoderma vermiculata, and keratosis follicularis spinulosa decalvans); and the lichen planopilaris (LPP) subgroup (including LPP, frontal fibrosing alopecia, Graham-Little-Piccardi-Lassueur Syndrome and fibrosing alopecia in a pattern distribution). An interface dermatitis with lichenoid inflammation is characteristic of the LPP group of disorders, but the literature provides scant information about the histopathology of the KPA group. Read More

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March 2017
37 Reads

Red face revisited: Disorders of hair growth and the pilosebaceous unit.

Clin Dermatol 2014 Nov-Dec;32(6):784-99. Epub 2014 Mar 1.

Sector of Dermatology and Post-Graduation Course, University Hospital, and School of Medicine, Federal University of Rio de Janeiro, Rua Dona Mariana 143/C-32, Botafogo 22280-020, Rio de Janeiro, Brazil.

This paper reviews the recent literature on the diseases of the hair and pilosebaceous unit that may cause a red face. We discuss the epidemiology, clinicals, pathogenesis, and therapy of lichen planopilaris with its variants, discoid lupus erythematosus, folliculitis decalvans, dissecting folliculitis, acne keloidalis nuchae, pseudofolliculitis barbae, tinea capitis, tinea barbae, folliculitis of diverse causative factors and inflammatory follicular keratotic syndromes, ulerythema ophryogenes, atrophoderma vermiculatum, keratosis follicularis spinulosa decalvans, and folliculitis spinulosa decalvans. Read More

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August 2015
17 Reads

Red face and fungi infection.

Clin Dermatol 2014 Nov-Dec;32(6):734-8. Epub 2014 Mar 2.

Department of Dermatology, Dr. Jose Eleuterio Gonzalez University Hospital, Universidad Autonoma de Nuevo Leon, Monterrey, Mexico.

Red face syndrome is characterized by an erythematous dermatitis that is produced by different entities. These include rosacea, seborrheic dermatitis, contact dermatitis, atopic dermatitis, psoriasis, cutaneous lupus, photodermatosis, post-topical steroid dermatosis, demodicosis, borderline borderline (BB) leprosy, mastocytosis, carcinoid, postneoplasia flushing, cutaneous lymphoma, tineas, ulerythema ophryogenes, and psychosomatic flushing. Red face is a relatively common dermatologic manifestation. Read More

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August 2015
9 Reads

Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome.

J Dermatol 2014 May;41(5):371-6

Departments of Dermatology, Venereology, Allergology and Immunology, Dessau Medical Center, Dessau, Germany.

Keratosis pilaris and ulerythema ophryogenes (keratosis pilaris atrophicans faciei) are part of a group of hereditary disorders of hair follicle keratinization involving follicular inflammation and subsequent atrophy. Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. This trias was first described in a patient by Zouboulis et al. Read More

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May 2014
8 Reads

Ulerythema ophryogenes: updates and insights.

Cutis 2014 Feb;93(2):83-7

Department of Dermatology, Rutgers New Jersey Medical School, Medical Science Building, H-576, Newark, NJ 07103, USA.

Ulerythema ophryogenes is a rare cutaneous atrophic disorder that occasionally is associated with Noonan syndrome, de Lange syndrome, Rubinstein-Taybi syndrome, and cardiofaciocutaneous (CFC) syndrome. Often presenting in pediatric patients, the pathogenesis of ulerythema ophryogenes remains unclear, though several genetic causes have been suggested. Treatment recommendations remain anecdotal, but clearance has been noted as the patient ages. Read More

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February 2014
12 Reads

Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature.

J Cutan Med Surg 2013 May-Jun;17(3):212-8

University of Calgary, Calgary, AB, Canada.

Background: Ulerythema ophryogenes (also known as keratosis pilaris atrophicans faciei) is a rarely reported cutaneous manifestation of Noonan syndrome.

Objective: Recognizing ulerythema ophryogenes as a cutaneous association in Noonan syndrome may aid in the diagnosis of this relatively common genetic condition.

Methods: We present a case of a patient with Noonan syndrome and ulerythema ophryogenes associated with a SOS1 mutation and review the literature on this association. Read More

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July 2013
18 Reads

Ulerythema ophryogenes and Noonan syndrome.

Dermatol Online J 2013 Feb 15;19(2):14. Epub 2013 Feb 15.

We describe a patient with Noonan syndrome (NS) presenting with ulerythema ophrygenes (UO)--an association initially suggested in a single case series of five patients by Pierini and Pierini in 1979. Recognition of the association of UO with NS by pediatric dermatologists is important because of the high incidence of cardiovascular anomalies in NS. Therefore, in infants and children presenting with UO, clinicians should maintain a high index of suspicion for NS and refer for further workup. Read More

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February 2013
17 Reads

Keratosis pilaris and ulerythema ophryogenes in a woman with monosomy of the short arm of chromosome 18.

An Bras Dermatol 2011 Jul-Aug;86(4 Suppl 1):S42-5

Serviço de Dermatologia, Complexo Hospitalar Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brasil.

Partial monosomy of the short arm of chromosome 18 (18p- syndrome) is characterized mainly by speech delay, mild to moderate mental retardation and short stature. We describe a patient with the 18p- syndrome and widespread severe keratosis pilaris and ulerythema ophryogenes. This is the fourth case in which such an association has been reported. Read More

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March 2012
5 Reads

Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development.

Br J Dermatol 2012 Mar;166(3):601-7

Department of Dermatology and Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road TBRC, 2nd Floor, Suite C2010, Milwaukee, WI 53226, USA.

Background: The RASopathies are a class of human genetic syndromes caused by germline mutations in genes that encode protein components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Costello syndrome (CS) is a RASopathy caused by mutations in the HRAS gene, a key regulator of signal transduction.

Objective: To quantify the specific cutaneous phenotype observed in 46 individuals with Costello syndrome with confirmed HRAS mutations. Read More

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March 2012
3 Reads

Ulerythema ophryogenes, a rare and often misdiagnosed syndrome: analysis of an idiopathic case.

Int J Immunopathol Pharmacol 2011 Apr-Jun;24(2):523-7

Keratosis pilaris (KP) is a follicular hyperkeratosis disorder which is frequently detected in the adult population (44%), mostly in female adolescents (80%). It is a genetic autodominant dermatosis with variable penetrance, but no specific gene association has been determined, even though association to the presence of chromosome 18p deletion has been reported in some cases. We report the case of a 51-year-old Caucasian woman affected by keratosis pilaris gradually progressing with age and with a story of multiple abortions. Read More

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August 2011
6 Reads

Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.

Br J Dermatol 2011 Mar 28;164(3):521-9. Epub 2011 Jan 28.

Department of Dermatology and Pediatrics, Oregon Health and Science University, Portland, USA.

Background: The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Cardiofaciocutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities of the skin and hair.

Objectives: Systematically to characterize the spectrum of dermatological findings in mutation-positive individuals with CFC syndrome. Read More

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March 2011
1 Read

Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome.

Am J Med Genet A 2010 Aug;152A(8):2043-7

Medical Genetics, Department of Experimental Medicine, Sapienza - University of Rome, San Camillo-Forlanini Hospital, Rome, Italy.

Palmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses. We report on a 10-year-old girl with generalized atrichia and a severe form of PPK causing pseudo-ainhum, sclerodactyly, and contractures, a phenotype not consistent with any well-defined condition. Non-specific additional findings comprised mild nail dystrophy and widespread keratosis pilaris including ulerythema ophryogenes. Read More

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August 2010
5 Reads

[Keratosis pilaris and keratosis pilaris atrophicans faciei].

J Dtsch Dermatol Ges 2006 Apr;4(4):319-23

Dermatology Clinic, University Hospital, Basel, Switzerland.

Keratosis pilaris and ulerythema ophryogenes (keratosis pilaris atrophicans faciei) are hereditary disorders with altered follicular keratinization that show follicular, horny papules surrounded by an erythematous halo. Ulerythema ophryogenes is an uncommon variant of keratosis pilaris characterized by erythematous follicular papules of the eyebrows and cheeks followed by a gradual loss of hair. On the background of 15-year-old boy who presented with keratosis pilaris and ulerythema ophryogenes, we discuss the various clinical manifestations of keratosis pilaris. Read More

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April 2006
5 Reads

Hereditary woolly hair and keratosis pilaris.

J Am Acad Dermatol 2006 Feb;54(2 Suppl):S35-9

Division of Dermatology, University of Washington, Seattle, Washington, USA.

We describe a family with woolly hair and ulerythema ophryogenes spanning four generations. Both woolly hair and ulerythema ophryogenes have been associated with Noonan syndrome and cardiofaciocutaneous syndrome (CFC), two disorders with considerable phenotypic overlap. This family did not exhibit any of the other findings characteristic of either Noonan syndrome or CFC, similar to a previously described pedigree with hereditary woolly hair. Read More

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February 2006
4 Reads

Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization.

Am J Med Genet A 2005 Nov;138(4):349-54

Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, California 94115, USA.

Interstitial deletions of chromosome 12q are rare, with only 11 reported cases in the literature. We recently described two cases with cytogenetically identical interstitial deletions of the long arm of chromosome 12. Here, we report on a third patient, a 26-month-old male with a cytogenetically-identical interstitial deletion: 46,XY,del(12)(q21. Read More

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November 2005
4 Reads

Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study.

Am J Med Genet A 2005 Aug;137(1):1-8

Pediatric Pathology, University of South Alabama Children's and Women's Hospital, Mobile, 36604, USA.

Many phenotypic manifestations have been reported in cardiofaciocutaneous (CFC) syndrome, but none, to date, are pathognomonic or obligatory. Previous histopathological studies reported findings in skin and hair; no autopsy studies have been published. We report the clinical and autopsy findings of a 7-year-old boy with severe CFC syndrome and malnutrition of psychosocial origin. Read More

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August 2005
6 Reads

Self-healing congenital verruciform hyperkeratosis.

Am J Med Genet A 2004 Oct;130A(3):303-6

Unité de Dermatologie Pédiatrique et, Hôpital Pellegrin-Enfants, Place Amelie Raba-Leon, Bordeaux, France.

We report on an apparently previously undescribed neonatal diffuse congenital hyperkeratosis with spontaneous improvement. The child, born to consanguinous parents, presented at birth with a verrucous hyperkeratosis involving face, trunk, and limbs, but sparing palms and soles. No visceral or skeletal abnormality was associated and neurosensory status was normal. Read More

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October 2004
5 Reads

Ulerythema ophryogenes and keratosis pilaris.

Eur J Dermatol 2002 Nov-Dec;12(6):572

Department of Clinical and Experimental Medicine, Division of Dermatology, University of Bologna, Italy.

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March 2003
15 Reads

[Atrophic pilar keratosis of the face: case report].

Med Pregl 2001 Sep-Oct;54(9-10):486-9

Klinicki centar Novi Sad, Klinika za kozno-venericne bolesti, 21000 Novi Sad, Hajduk Veljkova 1-3.

Introduction: Keratosis pilaris atrophicans faciei (KPAF), previously called ulerythema ophryogenes, belongs to a group of follicular syndromes with inflammation and atrophy. The disease often starts at birth or during the first months of life with autosomal dominant inheritance.

Case Report: We report a case of a 24-year-old woman, who noticed the first lesion two years ago. Read More

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March 2002
3 Reads

Ulerythema ophryogenes in Cornelia de Lange syndrome.

Pediatr Dermatol 2002 Jan-Feb;19(1):42-5

Department of Dermatology, Complejo Hospitalario Universitario, Faculty of Medicine, Santiago de Compostela, Spain.

A 17-year-old woman with Cornelia de Lange syndrome had asymptomatic skin lesions since the age of 4 years. These were multiple, follicular, horny papules, present on both cheeks, and surrounded by erythematous skin. Similar lesions were present on the external aspect of the arms, but amidst skin of normal coloration. Read More

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April 2002
3 Reads

Treatment of keratosis pilaris atrophicans with the pulsed tunable dye laser.

J Cutan Laser Ther 2000 Sep;2(3):151-6

Department of Dermatology, University Hospital of Wales, Cardiff, Wales, UK.

Background: Few therapies are currently available to treat keratosis pilaris atrophicans (KPA), a spectrum of disorders which includes ulerythema ophryogenes and atrophoderma vermiculata.

Objective: To evaluate the response of KPA to treatment with the pulsed dye laser (PDL) with regard to improvements in erythema and skin roughness, treatment tolerability, and side effects.

Methods: Treatment of all facial areas involved with KPA with the PDL at 585 nm was evaluated in 12 patients. Read More

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September 2000
10 Reads

Noonan syndrome: a case with recurrent keloid formation.

Cutis 2001 Apr;67(4):315-6

Department of Dermatology, Baskent Universitesi Tip Fakültesi, Dermatoloji Anabilim Dali, 12. sokak, No 7/6, Bahçelievler 06490, Ankara, Turkey.

We describe a 6-year-old boy who presented with erythema and horny, follicular papules on the lateral aspects of the eyebrows and extensor surfaces of the arms. The condition was diagnosed as ulerythema ophryogenes and keratosis pilaris atrophicans faciei. The patient had the characteristic features of Noonan syndrome, including dysmorphic facial appearance, congenital heart disease, pectus excavatum, and cubitus valgus, accompanied by a tendency for keloid formation. Read More

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April 2001
3 Reads

Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation.

Am J Med Genet 1999 Jul;85(2):179-82

Institute of Medical Genetics, Tomsk, Russia.

We present a patient with partial monosomy of the short arm of chromosome 18 caused by de novo translocation t(Y;18) and a generalized form of keratosis pilaris (keratosis pilaris affecting the skin follicles of the trunk, limbs and face-ulerythema ophryogenes). Two-color FISH with centromere-specific Y and 18 DNA probes identified the derivative chromosome 18 as a dicentric with breakpoints in p11.2 on both involved chromosomes. Read More

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July 1999
3 Reads

Rubinstein--Taybi syndrome and ulerythema ophryogenes in a 9-year-old boy.

Pediatr Dermatol 1999 Mar-Apr;16(2):134-6

Department of Dermatology, General Hospital of Galicia, Faculty of Medicine, Santiago de Compostela, Spain.

Rubinstein-Taybi syndrome is characterized by the presence of a peculiar facies, mental retardation, and broad thumbs and great toes. Several associated cutaneous abnormalities have been reported with this syndrome. Ulerythema ophryogenes is a form of follicular keratosis associated occasionally with other ectodermal defects and congenital anomalies. Read More

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September 1999
4 Reads

Ulerythema ophryogenes and keratosis pilaris in a child with monosomy 18p.

Pediatr Dermatol 1994 Jun;11(2):172-5

Department of Dermatology, University Medical Center Steglitz, Germany.

We report a 13-year-old boy with deletion of the short arm of chromosome 18 and follicular, partially inflammatory, keratotic papules of the eyebrows, foreskin, and cheeks (ulerythema ophryogenes) as well as the shoulders, upper back, upper arms, and thighs (keratosis pilaris), initially diagnosed as atopic dermatitis. Over 100 patients with this genetic defect have been reported, and the 18p- syndrome is considered one of the most frequently occurring deletion syndromes. However, ulerythema ophryogenes and keratosis pilaris have not been described in any of these patients, although the association of the latter with other genetic abnormalities is well known. Read More

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June 1994
3 Reads

Ulerythema ophryogenes in Noonan syndrome.

Pediatr Dermatol 1990 Mar;7(1):77-8

University of Arkansas for Medical Sciences, Little Rock.

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March 1990
2 Reads

Ulerythema ophryogenes with multiple congenital anomalies.

J Am Acad Dermatol 1988 Feb;18(2 Pt 2):437-40

Department of Medicine, University of Maryland School of Medicine, Baltimore.

Ulerythema ophryogenes, a rare dermatologic disorder characterized by inflammatory keratotic facial papules that may result in scars, atrophy, and alopecia, can occur in association with other congenital anomalies. A case reported here was accompanied by an unusual facies, developmental delay, central nervous system abnormalities, dental anomalies, and undescended testes. There was no response of the cutaneous lesions to topical keratolytics, topical tretinoin, or a short course of oral isotretinoin. Read More

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February 1988
5 Reads

[Cutaneous signs of Noonan's syndrome. Apropos of a case with ulerythema ophyogenes, disseminated pilar and sudoral keratosis and progressive alopecia].

Ann Dermatol Venereol 1988 ;115(3):303-10

Service de Dermatologie, Hôpital Sainte-Marguerite, Marseille.

A case of typical Noonan syndrome (NS) with eye abnormalities, pterygium colli, cryptorchid testes, lymphoedema and asymmetrical cardiac septal hypertrophy is reported in a 8-month old infant. This case was particularly interesting since it included skin manifestations which enabled an early diagnosis to be made. Ulerythema ophryogenes has already been proposed as a cutaneous marker of NS, but the keratinization disorders in our patient also included disseminated keratosis of both hair follicles and sweat glands orifices. Read More

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September 1988
3 Reads

[Ulerythema ophryogenes and folliculitis ulerythematosa reticulata].

Hautarzt 1987 Jul;38(7):411-3

Hospital INAMPS Brasília.

Three fundamental alterations characterize keratosis pilaris syndrome: follicular keratosis, vasodilatation and atrophy. Ulerythema ophryogenes and folliculitis ulerythematosa reticulata are types of the syndrome that localize on the eyebrows and cheeks and sometimes affect the ears and scalp. Punctuate atrophy and hair rarefaction may result. Read More

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July 1987
3 Reads

Ichthyosis follicularis with alopecia and photophobia.

Arch Dermatol 1985 Sep;121(9):1167-74

We treated two unrelated boys with ichthyosis follicularis, a rare skin disorder characterized by extensive noninflammatory spiny follicular hyperkeratoses, severe photophobia, and generalized noncicatricial alopecia. This disorder must be differentiated from keratosis follicularis spinulosa decalvans; ulerythema ophryogenes; keratosis pilaris rubra atrophicans faciei; atrichia with papular lesions; atrophodermia vermiculata; and keratitis, ichthyosis, and deafness syndrome, all of which share some clinical features. Ichthyosis follicularis with alopecia and photophobia appears to be a familial disorder, but too few cases have been reported to establish the exact mode of inheritance. Read More

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September 1985
3 Reads

The association of keratosis pilaris atrophicans and woolly hair, with and without Noonan's syndrome.

Br J Dermatol 1984 Mar;110(3):357-62

We describe two cases in which keratosis pilaris atrophicans faciei (ulerythema oophryogenes) occurred in association with hereditary woolly hair. This association also occurred in the father of case I. In case 2, Noonan's syndrome was also present. Read More

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March 1984
1 Read

[Noonan syndrome: differential diagnosis with Turner's syndrome].

Bol Med Hosp Infant Mex 1979 Nov-Dec;36(6):1089-97

Clinical and laboratory evidences assure an unequivocal identity to the syndrome described by Noonan. We believed that the terminology used by many authors has contributed to maintain confusion with Turner's syndrome from which it is clearly differenciated. The signology of both syndromes was confrontated in order to delineate the syndrome. Read More

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December 1979
2 Reads

Keratosis pilaris atrophicans faciei (ulerythema ophryogenes): a cutaneous marker in the Noonan syndrome.

Br J Dermatol 1979 Apr;100(4):409-16

Five cases are reported of Noonan's syndrome, all of which presented keratosis pilaris atrophicans faciei (ulerythema ophryogenes). This dermatosis fulfils the criteria mentioned by Noonan & Ehmke (1963) as a pointer for the investigation of cardiac anomalies, especially of the pulmonary artery. Read More

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April 1979
3 Reads

Ulerythema ophryogenes with mental retardation.

Authors:
A E Navaratnam

Proc R Soc Med 1973 Mar;66(3):233-4

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March 1973
1 Read

[Ulerythema ophryogenes and functional ocular diseases].

Arch Belg Dermatol Syphiligr 1970 Oct-Dec;26(4):581-4

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September 1971
2 Reads

Ulerythema ophryogenes and atopy.

Authors:
R L Mertens

Arch Dermatol 1968 Jun;97(6):662-3

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June 1968
2 Reads

[Ulerythema ophrygene; a manifestation of the atopic syndrome?].

Authors:
R L Mertens

Ned Tijdschr Geneeskd 1968 May;112(21):973-6

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May 1968
1 Read

[Ulerythema ophryogenes and its relations to keratosis pilaris].

Authors:
E Csermely

G Ital Dermatol Minerva Dermatol 1968 Jan-Feb;109(1):25-38

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February 1969
1 Read

Ulerythema ophryogenes and atopy.

Authors:
R L Mertens

Dermatologica 1968 ;136(5):407

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September 1968
1 Read

Ulerythema ophryogenes.

Authors:
D I WILLIAMS

Proc R Soc Med 1962 Apr;55:317-8

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April 1962
5 Reads