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Pigment Cell Melanoma Res 2018 Dec 7. Epub 2018 Dec 7.

Institute of Human Genetics, University Hospital Otto-von-Guericke-University, Magdeburg, German.

Mosaic RASopathies constitute a clinically and genetically heterogeneous group of non-inherited congenital (neuro)cutaneous disorders caused by postzygotic mutations in genes encoding components of the RAS-MAPK signaling pathway (Luo & Tsao, 2014). There are striking genotype-phenotype correlations within this group but also clinical features overlapping between distinct disorders. Congenital melanocytic nevi (CMN) are the most common lesions falling into the category of mosaic RASopathies. Read More

Oman J Ophthalmol 2018 Sep-Dec;11(3):265-266

Dr. R P Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Giant Congenital Melanocytic Nevus (GCMNs) is mostly reported in area of trunk followed by limbs and head. Their incidence is <1:20,000 newborns It derives attention due to its association with malignant melanoma.The risk of developing malignant melanoma is between 5 to 10%. Read More

Clin Pediatr (Phila) 2018 Dec 3:9922818816421. Epub 2018 Dec 3.

1 University of Miami, Miami, FL, USA.

Background: Prior reports on large congenital melanocytic nevi (LCMN) do not provide a clear management approach to physicians to advise parents or patients. Whether the presence of a halo around the nevus can guide management has not been fully explored.

Design: Children born with an LCMN were observed without active intervention. Read More

Actas Dermosifiliogr 2018 Oct 25. Epub 2018 Oct 25.

Centro Integral de Dermatología, Tucumán, Argentina.

Vet Dermatol 2018 Nov 25. Epub 2018 Nov 25.

Institute of Genetics, Vetsuisse Faculty, University of Bern, Länggassstrasse 120, 3001, Bern, Switzerland.

Background: The feline counterpart of human inflammatory linear verrucous epidermal nevus (ILVEN) has been described; however, the possible underlying developmental defect has not been investigated.

Objective: To report a case of multiple ILVEN-like lesions in a cat with a genetic variant in the NSDHL gene.

Animals: A 2-year-old, female, domestic short hair cat with a history of multiple alopecic, verrucous, hyperpigmented and erythematous skin lesions, following Blaschko's lines on the head, the limbs, the trunk and paw pads. Read More

J Curr Glaucoma Pract 2018 May-Aug;12(2):94-98. Epub 2018 Aug 1.

Senior Resident, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.

Aim: To report a case of bilateral phacomatosis pigmentovascularis (PPV), in a young male,presenting with developmental glaucoma and high myopia along with systemic features of klippel trenanauy weber (KTW) syndrome.

Background: The co-existence of oculodermal melanocytosis (ODM)and port-wine stain was termed PPV by Ota. Port-wine stain presents as part of Sturge-Weber syndrome (SWS). Read More

Am J Dermatopathol 2018 Nov 15. Epub 2018 Nov 15.

Deramatology, Hospital Universitario 12 de Octubre, Universidad Complutense, Instituto de Investigación I+12, Madrid, Spain.

Neurocristic cutaneous hamartomas (NCHs) are rarely reported tumors with divergent differentiation derived from persistently active pluripotent cells from the neural crest. They result from aberrant development of the neuromesenchyme, and they can express fibrogenic, melanocytic, and/or neurosustentacular differentiation. Thus, congenital melanocytic nevus also represents a neurocristic dysplasia of the skin in which cells are melanogenic cells arrested in development located in the reticular dermis, and nodular proliferative neurocristic hamartoma may arise within a congenital melanocytic nevus. Read More

JAAD Case Rep 2018 Nov 9;4(10):1010-1013. Epub 2018 Nov 9.

Department of Dermatology, the University of California, Irvine, California.

Eplasty 2018 5;18:e30. Epub 2018 Oct 5.

Plastic and Reconstructive Surgery Section, Department of Surgery, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Facial giant congenital melanocytic nevus represents a major cosmetic deformity for the child and parents and is a challenge for the plastic surgeons to achieve best cosmetic results. Herein, we present a case of single-stage surgical reconstruction using partial-thickness scalp skin graft aided with Matriderm dermal substitute for a facial giant congenital melanocytic nevus. An 8-year-old boy presented with a facial giant congenital melanocytic nevus without leptomeningeal involvement. Read More

Cureus 2018 Sep 10;10(9):e3275. Epub 2018 Sep 10.

Radiotherapy, Christian Medical College, Vellore, IND.

Neurocutaneous melanoma is a rare congenital syndrome associated with congenital melanocytic nevi with meningeal melanosis or melanoma. The disease is aggressive and has a high propensity for leptomeningeal metastases. We present the case history of a man with neurocutaneous melanoma managed with radical excision followed by hypofractionated adjuvant radiotherapy. Read More

J Indian Assoc Pediatr Surg 2018 Oct-Dec;23(4):219-221

Department of Pediatric Surgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Congenital nevi and fibrolipomatous hamartoma are benign tumors of childhood, the latter being very uncommon. Fibrous hamartoma of infancy typically occurs in <2 years of life. The concurrence of these two lesions is extremely rare. Read More

Pediatr Dermatol 2018 Nov;35(6):877

Division of Dermatology, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

Pediatr Dermatol 2018 Nov;35(6):878

Faculty of Dermatology, College of medicine, King Faisal University, Al Ahsa, Saudi Arabia.

Int J Trichology 2018 Jul-Aug;10(4):186-188

Department of Dermatology, Venereology and Leprology, Mahatma Gandhi Medical College and Research Institute, Puducherry, India.

BMC Ophthalmol 2018 Oct 30;18(1):283. Epub 2018 Oct 30.

Department of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Lab, 1 Dongjiaominxiang, Dongcheng District, Beijing, 100730, China.

Background: Universal ocular screening of infants is not a standard procedure in children's health care system in China. This pilot study investigated prevalence of ocular abnormalities of 6 weeks-age infants using wide-field digital imaging system.

Methods: Infants aged 6 weeks around were consecutively enrolled in a public hospital between April 2015 and August 2016. Read More

Lasers Surg Med 2018 Oct 30. Epub 2018 Oct 30.

Department of Dermatology, Gangnam Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.

Objectives: For small to medium sized congenital melanocytic nevi (CMN), the treatment of choice is staged surgical excision. Ablative lasers or pigment-specific lasers have also been recommended for lesions difficult for surgical removal or to avoid surgery. In this study, we retrospectively analyzed the results of several treatment options for CMN to find out the optimal treatment method. Read More

J Invest Dermatol 2018 Oct 22. Epub 2018 Oct 22.

Melanoma Unit, Department of Dermatology, Hospital Clínic de Barcelona, University of Barcelona, Barcelona, Catalonia, Spain; Department of Biochemical and Molecular Genetics, Hospital Clínic, IDIBAPS, University of Barcelona, Catalonia, Spain.

Large and giant congenital melanocytic nevi (CMN) are rare melanocytic lesions mostly caused by postzygotic NRAS alteration. Molecular characterization is usually focused on NRAS and BRAF genes in a unique biopsy sample of the CMN. However, large/giant CMN may exhibit phenotypic differences among distinct areas, and patients differ in features such as presence of multiple CMN or spilus-like lesions. Read More

Br J Dermatol 2018 Oct 3. Epub 2018 Oct 3.

Department of Paediatric Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, U.K.

J Dtsch Dermatol Ges 2018 Dec 1;16(12):1507-1510. Epub 2018 Oct 1.

Department of Dermatology and Allergic Diseases, University Medical Center Ulm, Germany.

Plast Reconstr Surg Glob Open 2018 Jun 19;6(6):e1827. Epub 2018 Jun 19.

Department of Plastic and Reconstructive Surgery, Kansai Medical University, Hirakata, Japan.

Cultured epithelial autograft (CEA) is an epithelial sheet prepared from a patient's own skin using cell culture. In Japan, CEA (JACE; Japan Tissue Engineering Co., Ltd. Read More

Indian Dermatol Online J 2018 Sep-Oct;9(5):334-337

Department of Pathology, JSS Medical College and Hospital, JSS University, Mysuru, Karnataka, India.

Locus minoris resistentiae (LMR) is a site of the body that offers lesser resistance than the rest of the body to the onset of disease. It can be congenital or acquired. Areas of cutaneous mosaicism such as epidermal nevi can act as congenital LMR, leading to the development of inflammatory skin conditions or skin tumors on these. Read More

Int J Dermatol 2018 11 21;57(11):e138-e140. Epub 2018 Sep 21.

Department of Dermatology, Hospital del Mar-Parc de Salut Mar, Barcelona, Spain.

J Am Acad Dermatol 2018 Sep 15. Epub 2018 Sep 15.

Department of Dermatology, Gangnam Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea. Electronic address:

Background: Although various laser treatments have been tried for CMNs, only small retrospective studies with short-term follow-up had been done to assess outcomes.

Objective: We analyzed the long-term outcomes of laser treatment for CMN and compared the outcomes with the combination treatment of partial excisions and lasers.

Methods: Patients with CMN treated with lasers were retrospectively reviewed and patients with more than 3-year follow-up were grouped as the long-term follow-up group. Read More

World Neurosurg 2018 Dec 8;120:583-589.e3. Epub 2018 Sep 8.

Section of Neurosurgery, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Philippines. Electronic address:

Background: Neurocutaneous melanosis is a rare phakomatosis characterized by large or multiple pigmented nevi and melanosis of the leptomeninges. It is often complicated by hydrocephalus due to melanotic deposits interfering with cerebrospinal fluid reabsorption in the basal cisterns or causing foraminal or aqueductal obstruction. In 10% of cases, it will be associated with the Dandy-Walker complex. Read More

Dermatol Ther 2018 09 10;31(5):e12662. Epub 2018 Sep 10.

Department of Dermatology, Third Xiangya Hospital, Central South University, Changsha, Hunan, China.

Nevus depigmentosus (ND) is a rare, congenital, nonprogressive depigmented lesion with irregular outline. To date, the few therapeutic approaches that have been developed to treat ND have yielded unsatisfactory results. We reported on a 6-month-old girl who presented with a ND on the right side of her face for 5 months. Read More

Virchows Arch 2018 Sep 6. Epub 2018 Sep 6.

Department of Dermatology, Unit of Pediatric Dermatology - CHRU Tours, Tours, France.

Cutaneous spindle-cell neoplasms in adults as well as children represent a frequent dilemma for pathologists. Along this neoplasm spectrum, the differential diagnosis with CD34-positive proliferations can be challenging, particularly concerning neoplasms of fibrohistiocytic and fibroblastic lineages. In children, cutaneous and superficial soft-tissue neoplasms with CD34-positive spindle cells are associated with benign to intermediate malignancy potential and include lipofibromatosis, plaque-like CD34-positive dermal fibroma, fibroblastic connective tissue nevus, and congenital dermatofibrosarcoma protuberans. Read More

Medicine (Baltimore) 2018 Aug;97(34):e12012

Department of Urology Surgery, Beijing Children's Hospital, National Center for Children's Health.

Rationale: Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by capillary malformation and pigmentary nevus. Congenital chylous ascites (CCA) is also a rare disease that results from maldevelopment of the lymphatic system. We report a case of a 5-month-old girl, who had both PPV and CCA. Read More

Pediatr Radiol 2018 Nov 3;48(12):1786-1796. Epub 2018 Aug 3.

Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, 505 Parnassus Ave., San Francisco, CA, 94143-0628, USA.

Background: Neurocutaneous melanosis is a rare disorder in which children with large cutaneous melanotic nevi have associated melanosis in the brain. Although many affected children have structurally normal brains, some have associated developmental disorders or brain anomalies.

Objectives: To determine the range of extent of brain melanosis as assessed by magnetic resonance imaging (MRI) and to investigate the frequency and types of associated brain anomalies. Read More

Ann Transl Med 2018 Jun;6(12):249

First Department of Pathology, National and Kapodistrian University of Athens, Medical School, Athens, Greece.

Significant progress in the molecular pathology of melanocytic tumors have revealed that benign neoplasms, so-called nevi, are initiated by gain-of-function mutations in one of several primary oncogenes, such as in acquired melanocytic nevi, in congenital nevi or / in blue nevi, with consequent MAPK and PI3K/AKT/mTOR activation. Secondary genetic alterations overcome tumor suppressive mechanisms and allow the progression to intermediate lesions characterized by TERT-p mutation or to invasive melanomas displaying disruption of tumor suppressor genes. Currently, melanoma is molecularly regarded as four different diseases, namely , , and the "triple wild type" subtypes, which are associated with particular clinicopathological features. Read More

Mol Med Rep 2018 Sep 31;18(3):3153-3158. Epub 2018 Jul 31.

Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China.

Keratosis pilaris (KP) and nevus comedonicus (NC) are congenital keratinized dermatoses; however, the exact etiology of these two diseases is unclear. The objective of the present study was to identify the disease‑causing genes and their association with functional alterations in the development of KP and NC. Peripheral blood samples of one KP family, two NC families and 100 unrelated healthy controls were collected. Read More

Pediatr Dermatol 2018 Sep 19;35(5):644-650. Epub 2018 Jul 19.

Services de Chirurgie Maxillo-Faciale et Plastique, Assistance Publique-Hôpitaux de Paris, Hôpital Universitaire Necker Enfants-Malades, Université Sorbonne Paris Cité, Université Paris Descartes, Paris, France.

Background: Fibroblastic connective tissue nevi (FCTN) are benign skin conditions characterized by bland spindle cells infiltrating the reticular dermis and the upper subcutis with preservation of adnexal structures. A subset of FCTN expresses CD34, which may cause difficulties in the differential diagnosis, in particular with dermatofibrosarcoma (DFSP). We aim to study clinical and histological main features of congenital FCTN to better understand their heterogeneity. Read More

Eur Neurol 2018 13;80(1-2):1-6. Epub 2018 Jul 13.

Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing,

Background: Neurocutaneous melanocytosis (NCM) is a poorly understood disease due to its rarity. This study aimed to summarize the characteristics of adult NCM and improve the awareness of this disease.

Methods: The clinical data of 13 adult patients with NCM were retrospectively reviewed, including neuroimages, cerebrospinal fluid (CSF), and histological features. Read More

BMJ Case Rep 2018 Jul 13;2018. Epub 2018 Jul 13.

Department of Dermatovenereology, Hospital de Braga, Braga, Portugal.

Phakomatosis pigmentovascularis (PPV) is an uncommon dermatosis characterised by the presence of both pigmentary and vascular abnormalities. Its pathogenesis is not elucidated, and the prognosis is mainly determined by the presence of extracutaneous manifestations, such as Klippel-Trenaunay syndrome (KTS), that is defined by the triad of a port-wine stain (PWS), anomalous veins and progressive overgrowth of the affected extremity. Herein, we report a case of an adult patient, who presented with a large PWS, nevus of Ota, ocular melanosis, and limb hypertrophy and varicosities. Read More

Pediatr Dermatol 2018 Sep 12;35(5):e281-e285. Epub 2018 Jul 12.

Faculty of Medicine, University of Oslo, Oslo, Norway.

We report the case of a newborn boy with multinodular NRAS and BRAF mutation-negative congenital melanocytic nevi and cerebral lesions compatible with congenital intraparenchymal melanosis. Histopathology from skin lesions showed atypical nodular melanocytic proliferation with marked melanocytic atypia and a large number of mitoses and apoptosis, indicating aggressive proliferation. The child developed several new subcutaneous tumors and multiple internal lesions, which were confirmed to be metastases, and died at 5 months of age. Read More

Ann Plast Surg 2018 Oct;81(4):449-455

Division of Plastic and Reconstructive Surgery, Northshore University Health System, Northbrook, IL.

Introduction: Whereas free tissue transfer has evolved to minimize morbidity in adults, less is known about outcomes after free flaps in children. This study sought to assess short- and long-term outcomes after microvascular reconstruction in the pediatric population.

Methods: Short- and long-term outcomes of free tissue transfer were assessed using chart-review and quality-of-life surveys. Read More

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

Pediatr Dermatol 2018 Sep 4;35(5):e310-e311. Epub 2018 Jul 4.

Section of Dermatology, Department of Medical Science and Public Health, University of Cagliari, Cagliari, Italy.

Molluscum contagiosum within a congenital melanocytic nevus has rarely been reported. We report a 6-year-old child with molluscum contagiosum infection arising within an intermediate melanocytic congenital nevus of the thigh, associated with itching and occasional bleeding. Dermoscopy lead to the correct diagnosis, but histologic confirmation with shave biopsy was performed to reassure the parents and allow mechanical removal of the lesions using curettage. Read More

Pediatr Dermatol 2018 Sep 27;35(5):e298-e299. Epub 2018 Jun 27.

Division of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

Nevus comedonicus is a rare, benign hamartoma of the pilosebaceous unit that may be isolated or part of the nevus comedonicus syndrome. Although rare in children, complication by hidradenitis suppurativa-like lesions has been described. We present a report of a 9-year-old girl in whom surgical excision was curative, with a review of the relevant literature. Read More

Childs Nerv Syst 2018 Aug 12;34(8):1471-1477. Epub 2018 Jun 12.

University Hospital of Wales, Cardiff, UK.

Introduction: Neurocutaneous melanosis (NCM) is a sporadic condition characterised by congenital melanocytic nevi and melanocytic thickening of the leptomeninges. It is believed to result from congenital dysplasia of melanin-producing cells within the skin and leptomeninges. The management of cutaneous manifestations remains controversial; for neurological manifestations, outcome remains poor even with the use of radiotherapy and chemotherapy. Read More

J Med Case Rep 2018 Jun 23;12(1):175. Epub 2018 Jun 23.

Department of Internal Medicine and Sub-specialties, Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon.

Background: Giant congenital melanocytic nevus is a very rare condition characterized by a large skin lesion and an increased risk of complications like neurocutaneous melanosis and malignant transformation. Reports of giant congenital melanocytic nevus are scarce in the sub-Saharan African literature and here we present a case of this disease in a Cameroonian adolescent.

Case Presentation: A 12-year-old Cameroonian girl from the "Baka" ethnic group, with no relevant family and medical histories presented with a progressively extensive brownish-black nodular hypertrophic skin lesion of approximately 45 cm, which she had had since she was 2-days old. Read More

Pediatr Dermatol 2018 Sep 22;35(5):690-692. Epub 2018 Jun 22.

Department of Dermatology, Venereology, and Leprosy, Sri B.M. Patil Medical College, Hospital& Research Center, BLDE University, Vijayapur, Karnataka, India.

Any form of congenital nevus in a child is a cause of parental anxiety. Parents are often worried about the future course of the lesion. Some of these lesions grow in extent with the child's growth and involve other body areas; others grow proportionate to the involved body part, giving an impression of apparent growth of the lesion. Read More

J Vasc Bras 2017 Oct-Dec;16(4):320-324

Universidade de São Paulo - USP, School of Medicine, Unit of Interventional Radiology, São Paulo, SP, Brazil.

Parkes-Weber syndrome is a congenital vascular disease that comprises capillary, venous, lymphatic, and arteriovenous malformations. Although Parkes-Weber syndrome is a clinically distinct entity with serious complications, it is still frequently misdiagnosed as Klippel-Trenaunay syndrome, which consists of a triad of malformations involving the capillary, venous, and lymphatic vessels, without arteriovenous fistulas. Both syndromes are generally diagnosed with Doppler ultrasound and confirmed by magnetic resonance angiography. Read More

BMJ Case Rep 2018 Jun 20;2018. Epub 2018 Jun 20.

Otolarnygology, Royal Berkshire Hospital, Reading, UK.

A 13-year-old girl was referred by her general practitioner with acute worsening exertional dyspnoea and sudden onset of left-sided chest pain. There was no associated trauma, palpitations or syncope. Clinical examination revealed that the left lung was hyper-resonant on percussion with reduced air entry on auscultation. Read More

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

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

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.

Int J Womens Dermatol 2018 Mar 12;4(1):27-31. Epub 2017 Dec 12.

Ann & Robert H. Lurie Children's Hospital, Chicago, IL.

Background: Pediatric skin disorders can affect children's self-esteem, relationships with caregivers and peers, and performance in school and activities.

Objective: This review describes common pediatric congenital and acquired dermatologic disorders and the impact that these disorders can have on children's self-esteem.

Methods: A review of current, English-language literature was conducted with use of the PubMed database. Read More