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    751 results match your criteria Epidermal Nevus Syndrome

    1 OF 16

    Familial papular epidermal nevus with "skyline" basal cell layer and multiple pilomatricomas: A new association?
    Pediatr Dermatol 2018 Feb 28. 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

    An institution-wide algorithm for direct-stick embolization of peripheral venous malformations.
    J Vasc Surg Venous Lymphat Disord 2018 Jan 29. Epub 2018 Jan 29.
    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

    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

    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

    [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

    Intratarsal keratinous eyelid cysts in Gorlin syndrome: A review and reappraisal.
    Surv Ophthalmol 2017 Dec 27. 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

    Wooly hair nevus.
    An Bras Dermatol 2017 ;92(5 Suppl 1):163-165
    Department of Dermatology at Hospital Naval Marcílio Dias (HNMD) - Rio de Janeiro (RJ), Brazil.
    Woolly hair nevus is a rare condition characterized by a structural anomaly of the hair, restricted to certain areas of the scalp. The hair becomes coiled and slightly hypopigmented. The term woolly hair refers to changes that affect all the scalp and has a hereditary character. Read More

    Unusual Cause of West Syndrome.
    J Pediatr Neurosci 2017 Jul-Sep;12(3):288-290
    Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
    Schimmelpenning-Feuerstein-Mims syndrome is a congenital neurocutaneous disorder, comprising of organoid epidermal nevus with a broad spectrum of multiorgan dysfunction (neurologic, skeletal, cardiovascular, ophthalmic, and urologic) secondary to postzygotic mutation in the early embryonic period. Predominant neurological manifestations include epilepsy, intellectual impairment, and focal deficits. Here, we report a 3-year-old girl who presented with epileptic spasms and had a characteristic linear sebaceous nevus. Read More

    Is Ki-67, keratin 16, involucrin, and filaggrin immunostaining sufficient to diagnose inflammatory linear verrucous epidermal nevus? A report of eight cases and a comparison with psoriasis vulgaris.
    An Bras Dermatol 2017 Sep-Oct;92(5):682-685
    Department of Dermatology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, Guangdong, China.
    Inflammatory linear verrucous epidermal nevus and linear psoriasis are sometimes hard to differentiate clinically and pathologically. Although immunohistochemical expression of keratin 10 (K10), K16, Ki-67, and involucrin may be useful for differentiating both entities, these results have been reported in only a few cases. We collected data from 8 patients with inflammatory linear verrucous epidermal nevus, 11 with psoriasis vulgaris, and 8 healthy controls and evaluated immunohistochemical expression of Ki-67, K16, involucrin, and filaggrin among them. Read More

    Epidermal nevus syndromes: New insights into whorls and swirls.
    Pediatr Dermatol 2018 Jan 16;35(1):21-29. Epub 2017 Oct 16.
    Department of Dermatology, University of California, San Francisco, Santa Rosa, CA, USA.
    Knowledge of the molecular underpinnings of many epidermal nevi and epidermal nevus syndrome has expanded rapidly in recent years. In this review and update on epidermal nevus syndrome, we will cover recent genetic discoveries involving epidermal nevi, including nevus sebaceus, keratinocytic epidermal nevus, nevus comedonicus, congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome, phakomatosis pigmentokeratotica, Becker's nevus, porokeratotic adnexal ostial nevus, inflammatory linear verrucous epidermal nevi, and cutaneous-skeletal hypophosphatemia syndrome. We will discuss how newly defined mutations relate to the biology reflected in the cutaneous patterns seen in these mosaic disorders and how new molecular data has informed our understanding of these diseases and shaped management decisions. Read More

    A Case of Phacomatosis Pigmentokeratotica Associated With Multiple Basal Cell Carcinomas.
    Am J Dermatopathol 2018 Feb;40(2):131-135
    Department of Dermatology, College of Medicine, Kyung Hee University, Seoul, Korea.
    Phacomatosis pigmentokeratotica is a recently identified disease characterized by the coexistence of an epidermal nevus with sebaceous differentiation arranged along Blaschko lines and a speckled lentiginous nevus showing a checkerboard pattern, mostly in association with various extracutaneous defects. A 52-year-old man presented with asymptomatic ulcerative plaque on his left side of perioral area. A 2 × 2-cm-sized fleshy colored ulceration on his left perioral area was consistent with basal cell carcinoma with nevus sebaceous. Read More

    Pigmented Trichoblastoma of Nose: An Unusual Occurrence.
    J Clin Diagn Res 2017 Jul 1;11(7):MD09-MD10. Epub 2017 Jul 1.
    Junior Resident, Department of Ear, Nose and Throat, Sri Siddhartha Medical College, Agalakote, Karnataka, India.
    Nevus sebaceus of Jadassohn is a congenital tumour affecting the scalp and face. It is usually presented as a pigmented patch or plaque. It is a complex cutaneous hamartoma which involves pilosebaceous follicle, epidermis and adnexal structures. Read More

    Wilms tumor screening in diffuse capillary malformation with overgrowth and macrocephaly-capillary malformation: A retrospective study.
    J Am Acad Dermatol 2017 Nov 16;77(5):874-878. Epub 2017 Aug 16.
    Department of Dermatology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:
    Background: CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies) syndrome is associated with regional bony and/or soft tissue overgrowth, capillary malformation, and an increased risk for Wilms tumor.

    Objective: To evaluate the frequency of Wilms tumor in patients with 2 similar conditions: diffuse capillary malformation with overgrowth (DCMO) and macrocephaly-capillary malformation (M-CM).

    Methods: Culling our Vascular Anomalies Center database, we retrospectively reviewed patients in whom DCMO and M-CM had been diagnosed and who were evaluated between 1998 and 2016 for possible development of Wilms tumor. Read More

    Transcatheter embolization of persistent embryonic veins in venous malformation syndromes.
    J Vasc Surg Venous Lymphat Disord 2017 Sep;5(5):749-755
    Division of Hematology and Oncology, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ; Cancer Institute of New Jersey at the Bristol-Myers Squibb Children's Hospital, Robert Wood Johnson University Hospital, New Brunswick, NJ.
    Persistent embryonic veins represent a major source of venous hypertension and morbidity in venous malformation syndromes, such as Klippel-Trénaunay syndrome and congenital lipomatous overgrowth, vascular malformations, epidermal nevus, and skeletal deformities syndrome. Surgical stripping and phlebectomy are the most commonly reported alternatives to compression therapy for refractory cases. These techniques, although effective in those patients who meet the necessary anatomic criteria, can be associated with bleeding, wound-related complications, and recurrence. Read More

    Sonographic screening for Wilms tumor in children with CLOVES syndrome.
    Pediatr Blood Cancer 2017 Dec 19;64(12). Epub 2017 Jun 19.
    Vascular Anomalies Center, Boston Children's Hospital, Boston, Massachusetts.
    Background: CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. Wilms tumor (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain overgrowth disorders. After identifying WT in a child with CLOVES, we questioned whether ultrasonographic screening was necessary in these patients. Read More

    Basal cell carcinoma pathogenesis and therapy involving hedgehog signaling and beyond.
    Mol Carcinog 2017 Dec 22;56(12):2543-2557. Epub 2017 Aug 22.
    Department of Dermatology and Skin Diseases Research Center, University of Alabama at Birmingham, Birmingham, Alabama.
    Basal cell carcinoma (BCC) of the skin is driven by aberrant hedgehog signaling. Thus blocking this signaling pathway by small molecules such as vismodegib inhibits tumor growth. Primary cilium in the epidermal cells plays an integral role in the processing of hedgehog signaling-related proteins. Read More

    Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential.
    Pediatr Dermatol 2017 May;34(3):352-355
    Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina.
    Phacomatosis pigmentokeratotica (PPK) is a rare epidermal nevus syndrome characterized by the co-occurrence of a nevus sebaceous arranged along the lines of Blaschko with a speckled lentiginous nevus (SLN). We report a novel KRAS mutation in a patient with a large nevus sebaceous and an SLN who subsequently developed a vaginal botryoid rhabdomyosarcoma, an association not previously reported in the literature. This case expands our knowledge of the genetic basis for phacomatosis, in which mutations in HRAS have been previously described, although this report provides evidence that activating mutations in KRAS or HRAS may cause PPK. Read More

    A Case of Syringocystadenoma Papilliferum with Tubular Papillary Adenoma of the Chest.
    J Nippon Med Sch 2017 ;84(2):79-82
    Department of Dermatology, Nippon Medical School.
    We report a case of syringocystadenoma papilliferum (SCAP) combined with tubular papillary adenoma (TPA) arising on the chest of a 45-year-old Japanese woman. Histopathological examination revealed the characteristic findings of SCAP in the superficial part of the lesion and those of TPA in the deeper part. We reviewed the English literature about this combination. Read More

    Eruptive melanocytic nevi during azathioprine therapy for antisynthetase syndrome.
    Cutis 2017 Apr;99(4):268-270
    Department of Dermatology, University of Maryland Medical Center, Baltimore, USA.
    Eruptive melanocytic nevi (EMN) are rare multiple benign melanocytic nevi that develop within a few months. The phenomenon has been associated with a variety of dermatologic and systemic conditions, including Stevens-Johnson syndrome, toxic epidermal necrolysis, epidermolysis bullosa, Addison disease, human immunodeficiency virus infection, and internal malignancy, among others. It also is commonly attributed to medications, particularly immunosuppressive and chemotherapeutic agents. Read More

    Proteus Syndrome with Arteriovenous Malformation.
    Adv Biomed Res 2017 7;6:27. Epub 2017 Mar 7.
    Department of Dermatology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
    Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. Read More

    Melanomas and Dysplastic Nevi Differ in Epidermal CD1c+ Dendritic Cell Count.
    Biomed Res Int 2017 26;2017:6803756. Epub 2017 Feb 26.
    Chair of Pathomorphology, Faculty of Medicine, Jagiellonian University Medical College, Grzegórzecka 16, 31-351 Kraków, Poland.
    Dendritic cells could be involved in immune surveillance of highly immunogenic tumors such as melanoma. Their role in the progression melanocytic nevi to melanoma is however a matter of controversy.The number of dendritic cells within epidermis, in peritumoral zone, and within the lesion was counted on slides immunohistochemically stained for CD1a, CD1c, DC-LAMP, and DC-SIGN in 21 of dysplastic nevi, 27 in situ melanomas, and 21 invasive melanomas. Read More

    Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.
    Am J Med Genet A 2017 Apr;173(4):978-984
    Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
    Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the "PIK3CA-Related Overgrowth Spectrum." Here, we present seven molecularly confirmed patients with PIK3CA-Related Overgrowth Spectrum, including patients with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal syndrome, Klippel-Trenaunay syndrome, lymphatic malformation and two with atypical phenotypes that cannot be classified into existing disease categories. The literature on PIK3CA-Related Overgrowth Spectrum, suggests that PIK3CA c. Read More

    Squamous cell carcinoma arising in a multiple verrucous epidermal nevus.
    An Bras Dermatol 2016 Sep-Oct;91(5 suppl 1):166-168
    Universidade Federal de São Paulo (UNIFESP) - São Paulo (SP), Brazil.
    Verrucous epidermal nevi are hamartomatous lesions of the epidermis that, unlike other epidermal nevi (such as sebaceous nevus or nevus comedonicus), are rarely associated with malignant neoplasms. The majority of squamous cell carcinoma develop in linear or multiple epidermal nevus and rarely in solitary epidermal nevus. In general, the prognosis is favorable. Read More

    Papillary transitional cell bladder carcinoma and systematized epidermal nevus syndrome.
    Cutis 2017 Jan;99(1):61-64
    Department of Dermatology, State University of New York at Downstate Medical Center, Brooklyn, USA.
    Epidermal nevus syndrome (ENS), also known as Solomon syndrome, is a rare neurocutaneous disorder defined by mosaicism. Epidermal nevus syndrome may be associated with a variety of systemic findings, several of which have been described in the literature, including but not limited to central nervous system abnormalities and internal malignancies. There is a paucity of reports of patients with both epidermal nevi and papillary transitional cell bladder carcinoma in the literature. Read More

    Papular Epidermal Nevus with "Skyline" Basal Cell Layer Syndrome - Natural Course: Case Report and Literature Review.
    Case Rep Dermatol 2017 Jan-Apr;9(1):1-5. Epub 2017 Jan 10.
    Department of Dermatology, University Hospital Basel, Basel, Switzerland; Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
    Papular epidermal nevus with "skyline" basal cell layer (PENS) is a very rare type of keratinocytic nevus and is associated with extracutaneous findings such as neurological symptoms in about 50% of the cases. Therefore, it is also referred to as PENS syndrome. Clinically visible hyperkeratotic papules and plaques already appear at birth or shortly thereafter, while neurological symptoms such as epilepsy and mental retardation manifest themselves during childhood. Read More

    Dermoscopy of Papular Epidermal Nevus with Skyline Basal Cell Layer.
    Pediatr Dermatol 2017 Mar 23;34(2):e99-e101. Epub 2017 Jan 23.
    Division of Dermatology "U.O. Multizonale", Outpatient Consultation for Rare Diseases, "S. Chiara" Hospital, Trento, Italy.
    Papular epidermal nevus with skyline basal cell layer (PENS) is a newly described keratinocytic nevus whose dermoscopic characteristics have not been clarified. We used a dermatoscope to investigate the multiple PENSs of a patient with PENS syndrome. All the lesions shared a common dermoscopic homogeneous white pattern surrounded by peripheral, slightly dotted hyperpigmentation. Read More

    Massive Vulvar Linear Verrucous Epidermal Nevus Presenting at Menarche.
    J Pediatr Adolesc Gynecol 2017 Jun 16;30(3):429-430. Epub 2017 Jan 16.
    Department of Obstetrics & Gynecology, University of Rochester, Rochester, New York.
    Background: Epidermal nevi are benign hamartomatous growths of the skin that present at birth and develop in early childhood often linearly along the "lines of Blaschko." Verrucous linear epidermal nevi are the most common epidermal nevi and often are located on the trunk or extremities. There is minimal evidence regarding vulvar involvement and subsequent management of the associated cosmetic deformity in this anatomic location. Read More

    First Reported Case of 'Epidermal Nevus Syndrome' with a Triad of Central Nervous System Deformities.
    Cureus 2016 Dec 6;8(12):e916. Epub 2016 Dec 6.
    Internal Medicine, Griffin Hospital.
    Epidermal nevus syndrome (ENS) is a term used to describe the occurrence of an epidermal nevus in association with other extra-cutaneous developmental anomalies, most commonly involving the nervous and musculoskeletal systems. The nevus is classified on the basis of the main component which may be keratinocytic, sebaceous, follicular, apocrine, or eccrine. Most patients who present with ENS is at the time of birth, though some become apparent later in life. Read More

    Mosaic NRAS Q61R mutation in a child with giant congenital melanocytic naevus, epidermal naevus syndrome and hypophosphataemic rickets.
    Clin Exp Dermatol 2017 Jan 30;42(1):75-79. Epub 2016 Nov 30.
    Department of Paediatric Dermatology, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
    The association of hypophosphataemic rickets with verrucous epidermal naevus (EN) and elevated fibroblast growth factor 23 levels is known as cutaneous-skeletal hypophosphataemia syndrome (CSHS), and can be caused by somatic activating mutations in RAS genes. We report a unique patient with CSHS associated with giant congenital melanocytic naevus (CMN), neurocutaneous melanosis and EN syndrome, manifesting as facial linear sebaceous naevus, developmental delay and ocular dermoids. An activating mutation Q61R in the NRAS gene was found in affected skin and ocular tissue but not blood, implying that the disparate manifestations are due to a multilineage activating mutation (mosaic RASopathy). Read More

    Becker's Nevus Syndrome in a Pediatric Female Patient.
    Case Rep Pediatr 2016 6;2016:3856518. Epub 2016 Nov 6.
    Pediatric Endocrinology Department, Universidad de Antioquia, Medellin, Colombia.
    Becker's nevus syndrome is part of the epidermal nevus syndromes and has been described with a phenotype that includes Becker's nevus, ipsilateral breast hypoplasia, and variable skeletal malformations. It is more frequent in males than in females (5 : 1) but is more relevant in females. The diagnosis is clinically based and the skin lesion must be present and no other numbered criteria have been established, but with more criteria being present the possibility of the diagnosis is higher. Read More

    Becker Naevus Syndrome of the Lower Body: One Case and Review of the Literature.
    Acta Derm Venereol 2017 Apr;97(4):499-504
    Department of Dermatology, Venereology and Allergology, University Hospital Würzburg, Josef-Schneider-Str. 2, DE-97080 Würzburg, Germany.
    Becker naevus syndrome is a rare epidermal naevus syndrome defined by the co-occurrence of a Becker naevus with various cutaneous, muscular and skeletal anomalies. In the majority of cases, abnormalities exclusively consist of ipsilateral hypoplasia of the breast, areola and/or nipple in addition to the naevus. Here, we report on a 42-year-old woman with an extensive Becker naevus reaching from the left buttock to the left calf verified on histological examination. Read More

    Complex limbal choristoma in linear nevus sebaceous syndrome managed with scleral grafting.
    Indian J Ophthalmol 2016 Sep;64(9):692-694
    Department of Ophthalmology, Nagari Eye Hospital and Research Foundation, N.H.L. Medical College, Ahmedabad, Gujarat, India.
    Linear nevus sebaceous syndrome (LNSS) is characterized by nevus sebaceous, mental retardation, seizures, and ocular abnormalities such as complex limbal choistoma. A young male with history of mass in right eye and blackish discoloration of skin over right and left side of forehead since birth presented with foreign body sensation and diminished vision in right eye. Ocular examination showed mass over epibulbar region with chorioretinal coloboma and posterior staphyloma in right eye and megalocornea in left eye. Read More

    Cutaneous Horn of the Eyelid in 13 Cases.
    Ophthal Plast Reconstr Surg 2017 Jul/Aug;33(4):233-236
    *Ocular Oncology Service and †Department of Ophthalmic Pathology, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania, U.S.A.
    Introduction: Cutaneous horn of the eyelid is uncommon. The authors evaluate the features of benign, premalignant, and malignant tumors at the base of cutaneous horn of the eyelid.

    Objective: To describe the clinical and histopathologic features of cutaneous horn of the eyelid. Read More

    Carbon dioxide laser versus erbium:YAG laser in treatment of epidermal verrucous nevus: a comparative randomized clinical study.
    J Dermatolog Treat 2017 Aug 13;28(5):452-457. Epub 2016 Nov 13.
    b Assistant Professor of Otorhinolaryngology at ENT Unit - Medical Laser Applications , National Institute Of Laser Enhanced Sciences (NIlES) Cairo University , Egypt.
    Background: A verrucous epidermal nevus (VEN) is a skin disorder that has been treated using different treatment modalities with varying results. Ablative lasers such as carbon dioxide laser (CO) and erbium:yttrium-aluminum-garnet (Er:YAG) laser have been considered as the gold standard for the treatment of epidermal nevi.

    Objective: To evaluate and compare the efficacy, postoperative wound healing and side effects of pulsed COlaser and Er:YAG laser for the treatment of verrucous epidermal nevi. Read More

    Nevus Sebaceous of Jadassohn With Eight Secondary Tumors of Follicular, Sebaceous, and Sweat Gland Differentiation.
    Am J Dermatopathol 2016 Nov;38(11):861-866
    *Shanghai Skin Disease Hospital, Tongji University, Shanghai, China †Ackerman Academy of Dermatopathology, New York, NY ‡Department of Dermatology, Kasr Alainy Faculty of Medicine, Cairo University, Egypt.

    [Indications of the expansion in pediatric surgery. Experience of 30years and literature review].
    Ann Chir Plast Esthet 2016 Oct 8;61(5):740-749. Epub 2016 Aug 8.
    Service de chirurgie plastique, esthétique et reconstructrice, hôpital Salengro, rue Émile-Laine, 59037 Lille cedex, France. Electronic address:
    The expansion of soft tissue, especially skin, is an old and physiological process to increase the skin reserve allowing excision while coveraging of the resulting loss of substance. Easy in principle, this process is subjected to constraints in children requiring precise planning and rigorous technical procedure. Between 1990 and 2016, we performed 293 expansion protocols with 411 implants in 244 children. Read More

    Combined endovascular and microsurgical treatment of a complex spinal arteriovenous fistula associated with CLOVES syndrome in an adult patient.
    J Clin Neurosci 2016 Dec 8;34:232-234. Epub 2016 Oct 8.
    Department of Neurosurgery, Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, AZ, United States. Electronic address:
    CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and scoliosis/skeletal/spinal anomalies) syndrome is a congenital and almost exclusively pediatric syndrome associated with vascular malformations of the neuroaxis. We report the case of a complex spinal arteriovenous fistula in an adult woman with CLOVES syndrome treated using a multidisciplinary approach with endovascular embolization and microsurgical technique, and review the medical literature on this disease. Read More

    Syringocystadenocarcinoma Papilliferum In Situ, a Variant of Cutaneous Adenocarcinoma In Situ: A Case Report With Literature Review.
    Am J Dermatopathol 2016 Oct;38(10):762-5
    *Department of Dermatology, The Third Xiangya Hospital of Central South University, Changsha, China; †Department of Surgery, and ‡Department of Pathology and Laboratory Medicine and Department of Dermatology, Hofstra Northwell School of Medicine, NY.
    Syringocystadenocarcinoma papilliferum in situ, a variant of cutaneous adenocarcinoma in situ, is extremely rare. Only 9 cases have been published to date with 2 cases demonstrating pagetoid epidermal involvement. In this study, we report a case of syringocystadenocarcinoma papilliferum in situ with pagetoid epidermal involvement arising from a long-standing nevus sebaceus on the scalp of a 60-year-old woman. Read More

    Epidermal Nevus Presenting in a Pediatric Patient With Pallister-Killian Syndrome.
    Skinmed 2016 1;14(3):230-1. Epub 2016 Jun 1.
    Department of Dermatology, University of South Florida College of Medicine, Tampa, FL.
    A six-year-old boy with Pallister-Killian syndrome (PKS) presented to the clinic with extensive lesions on his body (Figure 1). The patient was not born with the lesions but began developing them on the head and neck, extending to his lower extremities, at 2 years of age. These lesions had been evaluated by his primary care physician and were previously treated with desonide and ketoconazole cream with little improvement. Read More

    Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment.
    Osteoporos Int 2016 Dec 6;27(12):3615-3626. Epub 2016 Aug 6.
    Skeletal Clinical Studies Unit, Craniofacial and Skeletal Disease Branch, National ADDRESSES, references BRACKETS, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive, Room 228, MSC 4320, Bethesda, MD, 20892-4320, USA.
    Cutaneous skeletal hypophosphatemia syndrome (CSHS), caused by somatic RAS mutations, features excess fibroblast growth factor-23 (FGF23) and skeletal dysplasia. Records from 56 individuals were reviewed and demonstrated fractures, scoliosis, and non-congenital hypophosphatemia that in some cases were resolved. Phosphate and calcitriol, but not skin lesion removal, were effective at controlling hypophosphatemia. Read More

    Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy.
    J Am Acad Dermatol 2016 Aug;75(2):420-7
    Departments of Dermatology, Pathology, and Genetics, Yale University School of Medicine, New Haven, Connecticut. Electronic address:
    Background: We recently demonstrated multilineage somatic mosaicism in cutaneous skeletal hypophosphatemia syndrome (CSHS), which features epidermal or melanocytic nevi, elevated fibroblast growth factor (FGF)-23, and hypophosphatemia, finding identical RAS mutations in affected skin and bone.

    Objective: We sought to: (1) provide an updated overview of CSHS; (2) review its pathobiology; (3) present a new patient with CSHS; and (4) discuss treatment modalities.

    Methods: We searched PubMed for "nevus AND rickets," and "nevus AND hypophosphatemia," identifying cases of nevi with hypophosphatemic rickets or elevated serum FGF-23. Read More

    What is your diagnosis?
    An Bras Dermatol 2016 May-Jun;91(3):378-80
    Universidade Federal de Minas Gerais (UFMG) - Belo Horizonte, MG, Brazil.
    CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes. Read More

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