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
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
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 (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
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
Background. 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. Read More
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
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 (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
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
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
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
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
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
*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.
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
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
*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
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
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
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
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
Overgrowth syndromes are characterized by global or localized disproportionate growth associated with other anomalies, including vascular malformations and neurological and/or visceral disorders. CLOVES (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal naevi, Scoliosis/Skeletal and spinal anomalies) is an overgrowth syndrome caused by mosaic activating mutation in gene PIK3CA, which gives rise to abnormal PI3K-AKT-mTOR pathway activation. These mutations are responsible for the clinical manifestations of the syndrome, which include low- and high-flow vascular malformations, thoracic lipomatous hyperplasia, asymmetric growth, and visceral and neurological disorders. Read More
Dysplastic nevi (DNs), also known as Clark's nevi or atypical moles, are distinguished from common melanocytic nevi by variegation in pigmentation and clinical appearance, as well as differences in tissue patterning. However, cellular and molecular differences between DNs and common melanocytic nevi are not completely understood. Using cDNA microarray, quantitative RT-PCR, and immunohistochemistry, we molecularly characterized DNs and analyzed the difference between DNs and common melanocytic nevi. Read More
Trichilemmoma and trichoblastoma are benign adnexal neoplasms derived from the hair follicle unit. While trichilemmomas are closely associated with the epidermis, trichoblastomas are found within the dermis and subcutaneous tissue. Both tumors have been reported to arise within nevus sebaceus of Jadassohn (NSJ). Read More
An uncommon type of epidermal nevus characterized by hyperpigmented hyperkeratotic bands following a Blaschko-linear pattern and generalized follicular hyperkeratosis were observed in a 17-year-old male patient who additionally showed tufted hair folliculitis on the scalp and clinodactyly of the fifth finger of both hands. The combination of epidermal nevus with skeletal abnormalities was first described by Gobello et al. [Dermatology 2000;201:51-55] as a new epidermal nevus syndrome that was named after the first author of this work. Read More
Nevus sebaceous is known by its association with one or more secondary tumors, but more than three multiple tumors arising from a nevus sebaceous is extremely rare. A 67-year-old female presented with a light brown plaque on the back of her head that contained a dome-shaped black node and an erosive lesion. Histopathological examination showed atypical basaloid cells in the black node. Read More
Naevus Sebaceous of Jadassohn is a rarely seen hamartomatous lesion and is a fourth type of sebaceous gland tumour, in which sebaceous glands show nevoid character of growth composed partly or completely of sebaceous glands. A detailed research revealed that very little data is available; no case of this disorder has been reported as an isolated eye lid lesion. Majority of the published cases are associated with systemic involvement. Read More
The predisposition to epithelial neoplasms in nevus sebaceous is well established; most tumors occur in adults and are benign. Hidradenoma is a relatively rare benign tumor of sweat gland origin that can rarely arise within a nevus sebaceous. We present an interesting case of a hidradenoma and sebaceoma arising within a nevus sebaceous and present a literature review of the 2 conditions. Read More
Sebaceous naevus are associated with malignant transformation. They commonly occur in the head and neck region and are associated with malignant transformation into basal cell and squamous cell carcinomas. This case report describes a case of a malignant melanoma arising from a longstanding sebaceous naevus. Read More
Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Read More
Epidermal nevi are hamartomatous lesion and its association with other developmental defects particularly of the central nervous system, eye and skeletal system are well recognized. We report a rare case of inflammatory linear verrucous epidermal nevus syndrome along with regional odontodysplasia; and to the best of our knowledge this is the second case reported in the literature. Read More
Several terms are widely used to define cutaneous lesions affecting the epidermis in association with extracutaneous lesions. Recently, based on the wide spectrum of cutaneous epidermal lesions, the various underlying molecular mechanisms and patterns of associated features have led to improved definitions of these disorders. Nevus sebaceous syndrome has been placed under the umbrella term of epidermal nevus syndrome, in which the nevus sebaceous, a congenital hamartomatous lesion of the epidermis, is associated with anomalies involving the brain, eyes, and bones. Read More
Semin Pediatr Neurol 2015 Dec 12;22(4):207-33. Epub 2015 Nov 12.
Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy; Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a mosaic patterning (usually arranged in archetypical patterns). Alternating segments of affected and unaffected skin or segmentally arranged patterns of abnormal skin often mirror similar phenomena occurring in extra-cutaneous organs/tissues [eg, eye, bone, heart/vessels, lung, kidney and gut]. Read More
Basal cell carcinoma (BCC) is the commonest tumor in human. About 70% sporadic BCCs bear somatic mutations in the PATCHED1 tumor suppressor gene which encodes the receptor for the Sonic Hedgehog morphogen (SHH). PATCHED1 germinal mutations are associated with the dominant Nevoid Basal Cell Carcinoma Syndrome (NBCCS), a major hallmark of which is a high susceptibility to BCCs. Read More
Nevus sebaceus of Jadassohn is a congenital cutaneous hamartoma comprising of multiple skin structures. It has the potential to develop into variety of neoplasms of various epidermal adnexal origins. While multiple tumors may occasionally arise, it is unusual to develop two different types of tumor, benign and malignant, to arise simultaneously within a single sebaceus nevus. Read More
The term epidermal nevus syndrome (ENS) has been used to describe the association of epidermal hamartomas and extracutaneous abnormalities. Although many continue to use the term "ENS," it is now understood that this is not one disease, but rather a heterogeneous group with distinct genetic profiles defined by a common cutaneous phenotype: the presence of epidermal and adnexal hamartomas that are associated with other organ system involvement. One commonality is that epidermal nevi often follow the lines of Blaschko and it appears the more widespread the cutaneous manifestations, the greater the risk for extracutaneous manifestations. Read More
Epidermal nevus syndrome (ENS) is a term that encompasses several phenotypes defined by the association of an epidermal nevus with one or more congenital systemic anomalies, mainly ocular, osseous and cerebral. The two most frequent, keratinocytic nevus syndrome and linear sebaceous nevus syndrome, also correspond to the neurological phenotypes. They both exhibit overlapping and distinctive features but same etiology: post-zygotic mosaic mutations in RAS genes. Read More
In a 37-year-old man, diagnosis of verrucous porokeratosis could only be made by histological examination. Previously, the skin lesions on the right buttock had been treated by several dermatologists as psoriasis vulgaris. The clinical picture of both dermatoses was characterized by sharply defined, erythematous papules and plaques. Read More
BMC Med Genet 2015 Oct 31;16:101. Epub 2015 Oct 31.
The Molecular Genetic Diagnosis Center, Shanghai Key Lab of Birth Defects, Translational Medicine Research Center of Children's Development and Disease, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, 201102, China.
Background: Linear nevus sebaceous syndrome (LNSS) is a multisystem disorder that includes nevus sebaceous and central nervous system, ocular and skeletal anomalies. We report the first case of a KRAS G12D mosaic mutation in a patient diagnosed with LNSS.
Case Presentation: A 3-month-old female with a clinical diagnosis of LNSS presented with intermittent epilepsy. Read More