809 results match your criteria Epidermal Nevus Syndrome


Basal Cell Carcinoma on a Nevus Sebaceous of Jadassohn: A Case Report.

J Clin Aesthet Dermatol 2019 Mar 1;12(3):40-43. Epub 2019 Mar 1.

Drs. Paninson, Trope, and Ramos-e-Silva are with the Sector of Dermatology, Postgraduation Course in Dermatology at the University Hospital and School of Medicine, Federal University of Rio de Janeiro in Rio de Janeiro, Brazil.

The nevus sebaceous of Jadassohn, usually present at birth, is a hamartoma composed predominantly of sebaceous glands, which can progress to benign and malignant tumors. Malignant neoplasms on the nevus sebaceous occur in about 2.5 percent of cases, with basal cell carcinoma accounting for 1. Read More

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440703PMC
March 2019
2 Reads

[Giant verrucous nevus in a 15-year old girl: about a case].

Pan Afr Med J 2018 24;31:50. Epub 2018 Sep 24.

CNAM (ex Institut Marchoux), Bamako, Mali.

Verrucous nevus is a benign tumor showing a linear pattern on Blaschko lines. It is caused by mosaic mutations of the receptor FGFR3 gene. It manifests as an aesthetic disfigurement, but individuals even experience functional complications due to itchiness. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.11604/pamj.2018.31.50.11408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6430852PMC
April 2019
1 Read

A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation.

Pediatr Dermatol 2019 Mar 12. Epub 2019 Mar 12.

Department of Biochemistry, Keio University School of Medicine, Tokyo, Japan.

Woolly hair nevus is a rare syndrome that presents as woolly hair in restricted areas of the scalp and may be associated with pigmented macules or epidermal nevus on the body. Here, we report a case of woolly hair nevus, linear pigmentation, and multiple epidermal nevi with a somatic HRAS c.34G>A(p. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13783DOI Listing

Extending the phenotypic spectrum associated with mosaicism for GJB2 mutations.

Br J Dermatol 2019 Feb 28. Epub 2019 Feb 28.

Institute for Human Genetics, Medical Center - University of Freiburg, Freiburg, Germany.

Cutaneous mosaicism is a common phenomenon resulting from postzygotic mutations. Mosaic skin lesions are manifold, and they may be accompanied by abnormalities of other organs. Here we investigated a young man with complex clinical features as part of a mosaic phenotype. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.17838DOI Listing
February 2019
1 Read

Schimmelpenning Syndrome.

Indian Pediatr 2018 Nov;55(11):1014

Department of Dermatology, Venereology and Leprosy, Dr RML Hospital and PGIMER, New Delhi, India.

View Article

Download full-text PDF

Source
November 2018

A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus.

J Hum Genet 2019 Feb 16;64(2):177-181. Epub 2018 Nov 16.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.

Schimmelpenning syndrome is a rare neurocutaneous disorder categorized as a mosaic RASopathy due to postzygotic HRAS or KRAS mutations. We report a 6-year-old girl diagnosed with Schimmelpenning syndrome due to a postzygotic KRAS G12D mutation. The patient had three atypical symptoms of Schimmelpenning syndrome: renovascular hypertension, congenital lipomatosis, and diabetes mellitus. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-018-0539-3DOI Listing
February 2019
3 Reads

A Patient With Schimmelpenning Syndrome and Mosaic KRAS Mutation.

J Craniofac Surg 2019 Jan;30(1):184-185

Division of Plastic Surgery, Children's National Health System, Washington, DC.

Schimmelpenning syndrome is a neurocutaneous disorder characterized by craniofacial nevus sebaceus that fall along embryonic cutaneous lines and tend to be associated with neurological, ocular, skeletal, and vascular abnormalities. We report a child with extensive nevus sebaceus of the scalp, face, and thorax and other unusual physical findings who was found to have a mosaic mutation of KRAS c.35G>A p. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000004887DOI Listing
January 2019
8 Reads

Cutaneous Skeletal Hypophosphatemia Syndrome in Association with a Mosaic Mutation.

Ann Clin Lab Sci 2018 Sep;48(5):665-669

Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea

Recent molecular genetic studies have revealed that Schimmelpenning-Feuerstein-Mims syndrome (SFMS), which presents as sebaceous nevi, is a mosaic RASopathy caused by postzygotic somatic activating mutations in , , or Some patients with SFMS also have hypophosphatemic rickets, called cutaneous skeletal hypophosphatemia syndrome (CSHS). We here report a pediatric case of biopsy-proven CSHS with mosaic mutation in the gene. A girl who showed extensive nevus sebaceous since birth had suffered progressive lower extremity deformity since the age of 5 years. Read More

View Article

Download full-text PDF

Source
September 2018
21 Reads

Verruciform xanthoma overlying inflammatory linear verrucous epidermal nevus and in broad segmental distribution.

BMJ Case Rep 2018 Oct 17;2018. Epub 2018 Oct 17.

Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.

A 17-year-old woman presented with moderately itchy, non-progressive, linearly arranged verrucous plaques over dorsum of left foot since early childhood. Two years ago, she developed slowly increasing, verrucous exophytic growth in posterior most aspect of linear verrucous plaque. One year ago, she also developed multiple, linearly arranged, fleshy plaques with surface crusting over lateral aspect of right leg extending to thigh. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2018-225964DOI Listing
October 2018
3 Reads

Inflammatory linear verrucous epidermal nevus responsive to 308-nm excimer laser treatment.

Cutis 2018 Aug;102(2):111-114

Advanced Dermatology Associates LTD; Lehigh Valley Health Network, Allentown, Pennsylvania, USA.

Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare cutaneous disease that presents as linear psoriasiform plaques with associated prominent pruritus. The lesions commonly pre-sent on the legs with onset during childhood. Inflammatory linear verrucous epidermal nevus typically is refractory to treatment. Read More

View Article

Download full-text PDF

Source
August 2018
7 Reads

Dermatoscopy of Common Lesions in Pediatric Dermatology.

Dermatol Clin 2018 Oct 16;36(4):463-472. Epub 2018 Aug 16.

Dermatology Clinic, University of Catania, Via S. Sofia 78, Catania 95123, Italy.

The use of dermatoscopy to assist in the diagnosis of a variety of proliferative, pigmentary, inflammatory, infectious, congenital, and genetic cutaneous and skin appendage disorders is constantly increasing, as it is effective, affordable, noninvasive, and quick to perform. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S07338635183108
Publisher Site
http://dx.doi.org/10.1016/j.det.2018.05.012DOI Listing
October 2018
23 Reads
1.434 Impact Factor

Dermoscopy of Adnexal Tumors.

Dermatol Clin 2018 Oct 16;36(4):397-412. Epub 2018 Aug 16.

Dermatology Department, Hospital General Universitario de Alicante, ISABIAL, C/Maestro Alonso 109, 03010 Alicante, Spain.

Cutaneous adnexal tumors include lesions with apocrine, eccrine, follicular, sebaceous, and mixed differentiation. Most are benign and sporadic, although malignant forms are occasionally observed and some cases develop in the setting of inherited syndromes. These tumors often cause immense diagnostic difficulty. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S07338635183107
Publisher Site
http://dx.doi.org/10.1016/j.det.2018.05.007DOI Listing
October 2018
26 Reads

Reply to: "Lightening Becker nevus: Role of topical therapies".

Authors:
Mao-Qiang Man

J Am Acad Dermatol 2019 02 6;80(2):e41. Epub 2018 Sep 6.

Department of Dermatology, Veterans Administration Medical Center and University of California San Francisco, San Francisco, California. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01909622183249
Publisher Site
http://dx.doi.org/10.1016/j.jaad.2018.08.037DOI Listing
February 2019
9 Reads

Lightening Becker nevus: Role of topical therapies.

J Am Acad Dermatol 2019 02 6;80(2):e39. Epub 2018 Sep 6.

Department of Dermatology and Venereology, All India Institute of Medical Sciences, Rishikesh, India. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaad.2018.08.038DOI Listing
February 2019

Successful treatment of verrucous epidermal nevus with fractional micro-plasma radio-frequency technology and photodynamic therapy.

J Cosmet Laser Ther 2018 Oct 21;20(6):357-359. Epub 2018 Aug 21.

a Department of Dermatology and Venereology, Nanfang hospital , Sourthern Medical University , Guangzhou , PR China.

Verrucous epidermal nevus (VEN) is a skin disorder that commonly presents at birth; it is characterized by skin-colored to brown verrucous papules in a linear distribution following Blaschko's lines. Even though it is extremely rare, VEN has been associated with malignant transformation. VEN has been treated by different treatment modalities with varying and frustrating results. Read More

View Article

Download full-text PDF

Source
https://www.tandfonline.com/doi/full/10.1080/14764172.2018.1
Publisher Site
http://dx.doi.org/10.1080/14764172.2018.1511914DOI Listing
October 2018
12 Reads

Choroid Osteoma in Schimmelpenning-Feuerstein-Mims Syndrome.

Indian Pediatr 2018 07;55(7):601-602

Department of Ophthalmology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India.

Background: Schimmelpenning syndrome is a multisystem disorder.

Case Characteristics: A term female neonate with sebaceous nevi of the face had choroid osteoma of the right eye.

Observation: At one month of age, the infant was observed to have choroidal neovascularization that was successfully treated with laser photo-coagulation and anti-VEGF. Read More

View Article

Download full-text PDF

Source
July 2018
20 Reads
1.014 Impact Factor

Epidermal Nevi and Related Syndromes - Part 2: Nevi Derived from Adnexal Structures.

Actas Dermosifiliogr 2018 Oct 2;109(8):687-698. Epub 2018 Jul 2.

Servicio de Dermatología, Hospital de Manacor, Manacor, Islas Baleares, España.

Epidermal nevi are hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin; they have traditionally been classified according to their morphology. New variants have been described in recent years and advances in genetics have contributed to better characterization of these lesions and an improved understanding of their relationship with certain extracutaneous manifestations. In the second part of this review article, we will look at nevi derived from the adnexal structures of the skin and associated syndromes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ad.2018.05.004DOI Listing
October 2018
11 Reads

Atypical Nevi in a Patient After Toxic Epidermal Necrolysis.

Acta Dermatovenerol Croat 2018 Jun;26(2):183-185

Ružica Jurakić Tončić, MD, Department of Dermatovenereology, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Šalata 4, 10000 Zagreb, Croatia;

Dear Editor, There are few literature data about nevi in patients with a history of toxic epidermal necrolysis (TEN) and little recommendations for follow-up and risks of melanoma (MM). Eruptive melanocytic nevi (EMN) is a rare phenomenon that has been associated with bullous disorders, immunosuppression, and immunodeficiency, but in some cases can occur without precipitating factors (1). The etiology is largely unknown, but there is evidence that immunosuppression might play a crucial role in nevogenesis, probably due to the inability of the immune system to inhibit melanocytic (MC) proliferation (2,3). Read More

View Article

Download full-text PDF

Source
June 2018
16 Reads

Ectopic thyroid choroidal mass in linear nevus sebaceous syndrome.

Ophthalmic Genet 2018 10 10;39(5):666-667. Epub 2018 Jul 10.

a Department of Ophthalmic Oncology , Cole Eye Institute, Cleveland Clinic Foundation , Cleveland , OH , USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/13816810.2018.1490962DOI Listing
October 2018
1 Read

Epidermal Nevi and Related Syndromes -- Part 1: Keratinocytic Nevi.

Actas Dermosifiliogr 2018 Oct 6;109(8):677-686. Epub 2018 Jul 6.

Servicio de Dermatología, Hospital de Manacor, Mallorca, Islas Baleares, España.

Epidermal nevi are hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin; they have traditionally been classified according to their morphology. New variants have been described in recent years and advances in genetics have contributed to better characterization of these lesions and an improved understanding of their relationship with certain extracutaneous manifestations. In the first part of this review article, we will look at nevi derived specifically from the epidermis and associated syndromes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ad.2018.05.005DOI Listing
October 2018
4 Reads

Inflammatory linear verrucous epidermal nevus associated with erosive monoarthritis.

Pediatr Dermatol 2018 Sep 4;35(5):e291-e293. Epub 2018 Jul 4.

Department of Dermatology, Hospital del Mar, Barcelona, Spain.

Inflammatory linear verrucous epidermal nevus and linear psoriasis are different entities with clinical and histopathologic similarities. Isolated reports of inflammatory linear verrucous epidermal nevus with concomitant psoriasis or a positive family history of psoriasis have been described, and the possibility that inflammatory linear verrucous epidermal nevus may be a mosaic form of cutaneous psoriasis has been postulated. We report a 17-year-old boy with a congenital, linear, erythematous, keratotic plaque on the dorsum of the fifth finger of the left hand with ipsilateral nail dystrophy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13592DOI Listing
September 2018
21 Reads

Overexpression of Androgen, Oestrogen and Progesterone Receptors in Skin Lesions of Becker's Naevus.

Acta Derm Venereol 2018 Oct;98(9):867-872

Department of Dermatology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, Guangdong, China.

Becker's naevus is androgen-dependent. The aim of this study was to investigate whether oestrogen and progesterone receptors are involved in this disorder. Immunohistochemistry showed that epidermal expression of androgen receptors, oestrogen receptors (α, β) and progesterone receptors was higher in skin lesions of Becker's naevus than in perilesional and control skin. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-2986DOI Listing
October 2018
4 Reads

Pulmonary thromboembolic events in patients with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities and Klippel-Trénaunay syndrome.

J Vasc Surg Venous Lymphat Disord 2018 07;6(4):511-516

Division of Vascular and Interventional Radiology, Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Mass. Electronic address:

Objective: Patients with Klippel-Trénaunay syndrome (KTS) and congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities (CLOVES) syndrome have central phlebectasia and enlarged persistent embryonic veins that are often incompetent and prone to thromboembolism. The purpose of the study was to determine the presence of phlebectasia and the incidence of symptomatic pulmonary embolism (PE).

Methods: A retrospective review was conducted of patients referred to the Vascular Anomalies Center at our institution during a 21-year period who were diagnosed with KTS and CLOVES syndrome. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S2213333X183012
Publisher Site
http://dx.doi.org/10.1016/j.jvsv.2018.01.015DOI Listing
July 2018
15 Reads

Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Nature 2018 06 13;558(7711):540-546. Epub 2018 Jun 13.

INSERM U1151, Institut Necker Enfants Malades, Paris, France.

CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related overgrowth syndromes (PROS). This rare condition has no specific treatment and a poor survival rate. Here, we describe a postnatal mouse model of PROS/CLOVES that partially recapitulates the human disease, and demonstrate the efficacy of BYL719, an inhibitor of PIK3CA, in preventing and improving organ dysfunction. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41586-018-0217-9DOI Listing
June 2018
44 Reads
1 Citation
42.351 Impact Factor

Macrodactyly with a complex glomuvenous malformation in congenital lipomatous overgrowth with vascular malformations, epidermal naevi and skeletal anomalies (CLOVES) syndrome.

Histopathology 2018 Oct 12;73(4):705-708. Epub 2018 Jul 12.

Department of Pathology and Medical Biology, Nuclear Medicine and Molecular Imaging, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/his.13670DOI Listing
October 2018

A call to study orphan diseases.

Authors:
Faizan Alawi

Oral Surg Oral Med Oral Pathol Oral Radiol 2018 08 22;126(2):95-97. Epub 2018 May 22.

Associate Professor of Pathology, University of Pennsylvania, School of Dental Medicine, 240 South 40th Street, Room 328B, Philadelphia, PA 19104, USA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S22124403183093
Publisher Site
http://dx.doi.org/10.1016/j.oooo.2018.05.003DOI Listing
August 2018
2 Reads

Extensive Nevus Comedonicus, Complicated with Recurrent Abscesses, Successfully Treated with Surgical Resurfacing.

J Cutan Aesthet Surg 2018 Jan-Mar;11(1):33-37

Department of Plastic Surgery, St Johns' Medical College and Hospital, Bengaluru, Karnataka, India.

Nevus comedonicus is a rare epidermal abnormality of the pilosebaceous unit, which is congenital in most patients but may also appear early in childhood. It may be localized or have an extensive involvement, the latter showing a unilateral predominance with only a few cases presenting bilaterally. Extensive nevus comedonicus can be associated with musculoskeletal defects, eye and neurological involvement, which constitutes nevus comedonicus syndrome. Read More

View Article

Download full-text PDF

Source
http://www.jcasonline.com/text.asp?2018/11/1/33/229976
Publisher Site
http://dx.doi.org/10.4103/JCAS.JCAS_122_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5921448PMC
May 2018
22 Reads

Burosumab: First Global Approval.

Authors:
Yvette N Lamb

Drugs 2018 Apr;78(6):707-714

Springer, Private Bag 65901, Mairangi Bay, Auckland, 0754, New Zealand.

Burosumab (Crysvita; Kyowa Hakko Kirin Co., Ltd. and Ultragenyx Pharmaceutical Inc. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s40265-018-0905-7
Publisher Site
http://dx.doi.org/10.1007/s40265-018-0905-7DOI Listing
April 2018
15 Reads

Reconstruction of a buttock defect after excision of inflammatory linear verrucous epidermal nevus.

Dermatol Ther 2018 May 6;31(3):e12597. Epub 2018 Apr 6.

Institute of Dermatology, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Chinese Academy of Medical Science & Peking Union Medical College, Nanjing, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dth.12597DOI Listing
May 2018
5 Reads

Basaloid Follicular Hamartoma: A Case Report and a Novel Cosmetic Treatment.

J Clin Aesthet Dermatol 2018 Mar 1;11(3):39-41. Epub 2018 Mar 1.

Dr. Segars is with NSU-COM/Largo Medical Center Dermatology Residency in Largo, Florida.

Basaloid follicular hamartoma (BFH) is a rare, benign neoplasm of the hair follicle, characterized by multiple brown papules involving the face, scalp, and trunk. It is described by multiple clinical forms, and can present as localized or generalized. Diagnosis is made histologically via biopsy, which is important in order to distinguish BFH from basal cell carcinoma (BCC) or other malignant epithelial neoplasms. Read More

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868784PMC
March 2018
6 Reads

Familial papular epidermal nevus with "skyline" basal cell layer.

Pediatr Dermatol 2018 May 25;35(3):e191-e192. Epub 2018 Mar 25.

Department of Dermatology, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain.

Papular epidermal nevus with "skyline" basal cell layer is a variant of keratinocytic nevus that usually occurs sporadically but may affect different family members. We report on the fourth family with papular epidermal nevus with "skyline" basal cell layer affecting a 3-month-old girl and her father. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13449DOI Listing
May 2018
9 Reads

Syringocystadenoma papilliferum and trichoblastoma arising in the nevus sebaceous.

Indian J Pathol Microbiol 2018 Jan-Mar;61(1):106-108

Department of Dermatology and Venerology, China-Japan Friendship Hospital, Beijing, China.

Nevus sebaceous (NS) is a clinically common benign tumor and has a high potential to develop into a great diversity of neoplasms of epidermal and adnexal origins. However, it is a rare phenomenon of the coexistence in a single NS with two or more skin tumors. We report a case of a 58-year-old woman with two kinds of neoplastic proliferation including syringocystadenoma papilliferum and trichoblastoma arising in NS on the scalp. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/IJPM.IJPM_613_16DOI Listing
November 2018
1 Read

Biodynamic excisional skin tension lines for surgical excisions: untangling the science.

Authors:
S P Paul

Ann R Coll Surg Engl 2018 Apr 15;100(4):330-337. Epub 2018 Mar 15.

University of Queensland, School of Medicine , Brisbane, Queensland , Australia.

Objective There remains confusion between Langer's lines and wrinkle lines with respect to the optimal orientation of elliptical excisions on the trunk. This study sought to determine the directions of wound closure that would result in least wound tension after skin lesion excisions. Materials and methods Some 1181 consecutive skin lesion excisions were investigated (age range 13-95 years, median 64 years) using a tensiometer to determine directions of least wound tension. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1308/rcsann.2018.0038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5958865PMC
April 2018
23 Reads

A case of cutaneous horn arising in verrucous epidermal nevus.

Indian J Dermatol Venereol Leprol 2019 Jan-Feb;85(1):74-75

Department of Pathology, AIIMS, Jodhpur, Rajasthan, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijdvl.IJDVL_435_17DOI Listing
April 2019
3 Reads

Yellow-orange hairless plaque on the scalp.

Authors:
Ahdi Amer

Cutis 2018 Jan;101(1):E10-E12

Wayne State University School of Medicine, Detroit, Michigan, USA.

View Article

Download full-text PDF

Source
January 2018
3 Reads

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.

Pediatr Dermatol 2018 May 1;35(3):e186-e188. Epub 2018 Mar 1.

Department of Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.

A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13441DOI Listing
May 2018
17 Reads

Familial papular epidermal nevus with "skyline" basal cell layer and multiple pilomatricomas: A new association?

Pediatr Dermatol 2018 May 28;35(3):e147-e150. Epub 2018 Feb 28.

Division of Dermatology, "U.O. Multizonale," S. Chiara Hospital, Outpatient Consultation for Rare Diseases, Trento, Italy.

Papular epidermal nevus with "skyline" basal cell layer is a newly described keratinocytic nevus. Recently, papular epidermal nevus with "skyline" basal cell layer has been reported in association with extracutaneous involvement, and the term papular epidermal nevus with "skyline" basal cell layer syndrome is used to indicate a neurocutaneous syndrome characterized by the presence of papular epidermal nevus with "skyline" basal cell layer and different neurologic symptoms that seem to improve during infancy and adolescence. Multiple pilomatricomas have been reported in association with various syndromes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13428DOI Listing
May 2018
8 Reads

Management of naevus sebaceous: a national survey of UK dermatologists and plastic surgeons.

Clin Exp Dermatol 2018 Jul 20;43(5):589-591. Epub 2018 Feb 20.

Dermatology Department, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Naevus sebaceous (NS) is a congenital cutaneous hamartoma, which typically occurs on the head and neck. Historically, the treatment of choice was excision in infancy because of the potential for malignant transformation; however, recent studies suggest that this risk is < 1% and unlikely in childhood. We sent a questionnaire to UK dermatologists and plastic surgeons to investigate current management practice of NS. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ced.13422DOI Listing
July 2018
2 Reads

Syndromic sebaceous nevus: current findings.

Int J Dermatol 2018 May 16;57(5):599-604. Epub 2018 Feb 16.

Service of Pediatric Orthopedic Plastic Surgery, Hôpital Lapeyronie, Montpellier, France.

Background: Sebaceous nevus is a congenital malformation of the skin that usually occurs on the scalp or face. Syndromic forms do rarely exist with associated cerebral and ocular malformations. The skin lesions are pale at birth and become irregular by puberty. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.13942DOI Listing
May 2018
9 Reads

An institution-wide algorithm for direct-stick embolization of peripheral venous malformations.

J Vasc Surg Venous Lymphat Disord 2018 05 1;6(3):351-357. Epub 2018 Feb 1.

Division of Hematology, Department of Medicine, Cancer Institute of New Jersey, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ.

Objective: No standardized therapeutic algorithm or embolic agent of choice has yet been identified for management of congenital peripheral venous malformations (VMs). Treatment options and reported outcomes therefore vary widely. Herein, we present an institution-wide algorithm for management of symptomatic congenital peripheral VMs using a single embolotherapeutic modality. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jvsv.2017.12.011DOI Listing
May 2018
37 Reads

Somatic KRAS mutation in an infant with linear nevus sebaceous syndrome associated with lymphatic malformations: A case report and literature review.

Medicine (Baltimore) 2017 Nov;96(47):e8016

Department of Pediatric Neurology, the Children's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.

Rationale: Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous syndrome, characterized by nevus sebaceous,central nervous system (CNS), ocular and skeletal abnormalities. The present study describes KRAS somatic mosaic mutation in a case of LNSS with lymphatic malformations (LMs).

Patient Concerns: A 4-month-old female with a clinical diagnosis of LNSS presented with infantile spasms, mental retardation, skull dysplasia, ocular abnormalities, congenital atrial septal defect, and LMs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MD.0000000000008016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5708909PMC
November 2017
8 Reads

Rare desmoplastic trichilemmoma associated with sebaceous nevus.

An Bras Dermatol 2017 Nov-Dec;92(6):836-837

Private Clinic - São Paulo (SP), Brazil.

Nevus sebaceous of Jadassohn is a congenital hamartoma that usually affects the scalp and face. Several benign or malignant neoplasias may develop in the lesion and the most common are trichoblastoma, syringocystadenoma papilliferum, and basal cell carcinoma. Trichilemmoma is a benign solid tumor originating from external sheath cells of pilosebaceous follicles. Read More

View Article

Download full-text PDF

Source
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S
Publisher Site
http://dx.doi.org/10.1590/abd1806-4841.20176540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786400PMC
April 2018
11 Reads

CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol.

J Eur Acad Dermatol Venereol 2018 Jul 1;32(7):1209-1213. Epub 2018 Feb 1.

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Background: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disorder characterized by peculiar cutaneous presentations and ipsilateral skeletal abnormalities. CHILD syndrome is caused by mutations in NSDHL gene, which involves in cholesterol synthesis.

Objectives: To verify the diagnosis of CHILD syndrome and seek effective pathogenesis-based therapy with little side-effects. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jdv.14788DOI Listing
July 2018
2 Reads

Linear nevus sebaceous syndrome presenting as circumscribed choroidal hemangioma.

Ophthalmic Genet 2018 04 15;39(2):278-281. Epub 2018 Jan 15.

a Department of Ophthalmic Oncology , Cole Eye Institute, Cleveland Clinic Foundation , Cleveland , OH , USA.

A 4-year-old female with a unilateral circumscribed choroidal hemangioma and secondary total exudative retinal detachment. A nasal skin scar-like lesion incised to confirm a histopathologic diagnosis of linear nevus sebaceous. Further imaging disclosed asymmetry of the lateral ventricle frontal horns, suggestive of the diagnosis of linear nevus sebaceous syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/13816810.2017.1418390DOI Listing
April 2018
5 Reads

[Phakomatosis pigmentovascularis cesioflammea: a case report].

Arch Argent Pediatr 2018 Feb;116(1):e121-e124

Servicio de Dermatología, Hospital Nacional de Pediatría "Prof. Dr. J. P. Garrahan", Ciudad Autónoma de Buenos Aires.

Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis). There are different types of PPV according to the pigmentary nevus associated with the vascular malformation. Patients may present only the cutaneous condition or have systemic manifestations, among them, trauma, neurological and ophthalmological disorders. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5546/aap.2018.e121DOI Listing
February 2018
8 Reads

Eruptive melanocytic nevi in a patient with toxic epidermal necrolysis-like cutaneous lupus.

Lupus 2018 06 4;27(7):1220-1222. Epub 2018 Jan 4.

1 Unidad de Gestión Clínica de Dermatología, 16824 Hospital Universitario Puerta del Mar , Cádiz, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0961203317751064DOI Listing
June 2018
1 Read

Picosecond 532-nm neodymium-doped yttrium aluminum garnet laser-a promising modality for the management of verrucous epidermal nevi.

Lasers Med Sci 2018 Apr 3;33(3):597-601. Epub 2018 Jan 3.

Photodermatoses Clinic, Laser Unit, Dermatology Department, Rabin Medical Center, Petach Tikva, Israel.

The verrucous epidermal nevus (VEN) is the most common type of epidermal nevi. As lesions can be disfiguring, treatment is often sought. Many therapeutic approaches have been reported, with variable efficacy and safety. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10103-017-2427-zDOI Listing
April 2018
24 Reads

Intratarsal keratinous eyelid cysts in Gorlin syndrome: A review and reappraisal.

Surv Ophthalmol 2018 Sep - Oct;63(5):711-718. Epub 2017 Dec 27.

Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA; Ophthalmic Plastic and Reconstructive Surgery Service, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.

A 38-year-old woman presented with multiple bilateral recurrent eyelid cysts. Her medical history was notable for Gorlin (nevoid basal cell carcinoma) syndrome. Histopathologic and immunohistochemical examinations revealed that the lesions were intratarsal keratinous cysts. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.survophthal.2017.12.007DOI Listing
September 2018
11 Reads