Development and Implementation of a Web-Based International Registry Dedicated to Atypical Pigmented Skin Lesions of the Face: Teledermatologic Investigation on Epidemiology and Risk Factors.

Background: Atypical pigmented facial lesions (aPFLs) often display clinical and dermoscopic equivocal and/or overlapping features, thus causing a challenging and delayed diagnosis and/or inappropriate excisions. No specific registry dedicated to aPFL paired with clinical data is available to date. Methods: The dataset is hosted on a specifically designed web platform. Each complete case was composed of the following data: (1) one dermoscopic picture; (2) one clinical picture; (3) two lesion data, that is, maximum diameter and facial location (e.g., orbital area/forehead/nose/cheek/chin/mouth); (4) patient's demographics: family history of melanoma, history of sunburns in childhood, phototype, pheomelanine, eyes/hair color, multiple nevi/dysplastic nevi on the body; and (5) acquisition device (videodermatoscope/camera-based/smartphone-based system). Results: A total of 11 dermatologic centers contributed to a final teledermoscopy database of 1,197 aPFL with a distribution of 353 lentigo maligna (LM), 146 lentigo maligna melanoma (LMM), 231 pigmented actinic keratoses, 266 solar lentigo, 125 atypical nevi, 48 seborrheic keratosis, and 28 seborrheic-lichenoid keratoses. The cheek site was involved in half of aPFL cases (50%). Compared with those with the other aPFL cases, patients with LM/LMM were predominantly men, older (69.32 ± 12.9 years on average vs. 62.69 ± 14.51), exhibited larger lesions (11.88 ± 7.74 mm average maximum diameter vs. 9.33 ± 6.46 mm), and reported a positive history of sunburn in childhood. Conclusions: The iDScore facial dataset currently represents a precious source of data suitable for the design of diagnostic support tools based on risk scoring classifiers to help dermatologists in recognizing LM/LMM among challenging aPFL in clinical practice.

Mutations of PTCH1 gene in two pedigrees with bifid rib-basal cell nevus-jaw cyst syndrome. / 肋骨分叉-基底细胞痣-é¢Œéª¨å›Šè‚¿ç»¼åˆå¾ä¸¤å®¶ç³»åŸºå› åºåˆ—å˜å¼‚åˆ†æž.

Two male patients with bifid rib-basal cell nevus-jaw cyst syndrome (BCNS) were admitted to Department of Stomatology, the First Affiliated Hospital of Bengbu Medical College due to radiological findings of multiple low density shadows in the jaw. Clinical and imaging findings showed thoracic malformation, calcification of the tentorium cerebellum and falx cerebrum as well as widening of the orbital distance. Whole exon high-throughput sequencing was performed in two patients and their family members. The heterozygous mutations of c.C2541C>A(p.Y847X) and c.C1501C>T(p.Q501X) in PTCH1 gene were detected in both patients. Diagnosis of BCNS was confirmed. The heterozygous mutations of PTCH1 gene locus were also found in the mothers of the two probands. Proband 1 showed clinical manifestations of low intelligence, and heterozygous mutations of c.C2141T(p.P714L) and c.G3343A(p.V1115I) were detected in FANCD2 gene. Proband 2 had normal intelligence and no FANCD2 mutation. The fenestration decompression and curettage of jaw cyst were performed in both patients. Regular follow-up showed good bone growth at the original lesion, and no recurrence has been observed so far.

[Lipomodeling for congenital breast deformities: Technique, results and indications]. / Place des transferts graisseux dans les malformations des seins et du thorax.

Congenital breast deformities usually occur during adolescence and can disturb the self-development and affect the identity during this crucial stage. Several surgical techniques are now available to correct these different anomalies. The objective is to clarify the place of lipomodeling in thoraco-mammary malformations, resuming the different indications, the results, as well as the limits and potential complications. The adipose tissue was harvested by soft aspiration as to reduce adipocyte trauma and using a syringe fitted with a 3.5mm cannula. After centrifugation, fat was reinjected retrogradely and by making thin cylinders of fat similar to "spaghetti". Moderate to severe asymmetry is one of the best indications for lipomodeling using one or two sessions. Thus, a perfect and lasting symmetry is achieved, without the need of an implant, which would inevitably leads to asymmetry because of a dissimilar evolution of the breast all over the time. In Becker's nevus syndrome, lipomodeling has also been performant in bluring the hyperpigmentation of the nevus. The role of lipomodeling in pectus excavatum deformity (antero-posterior sternocostal depression) is also crucial. Lipomodeling can be used alone, or in combination with a rigid customed silicone implant. Tuberous breasts include various anomalies. Lipomodeling is currently used especially when the anomaly is unilateral (2 fat graft sessions are usually needed). Fasciotomies are frequently performed too. Lipomodeling is a real revolution in the management of Poland syndrome (anomaly characterized by the unilateral lack of the pectoralis major muscle, more or less associated with other ipsilateral anomalies). On average, 3 to 5 sessions are necessary to obtain a suitable symmetry. Lipomodeling is very unlikely to cause major surgical complications. Cytosteatonecrosis nodules mainly occur with novice practitioner and decrease as they become more experienced. However, the principle of the three-dimensional network, and the phenomenon of tissue saturation of the recipient site should be respected. The main limitation of lipomodeling is directly related to the amount of fat available. That's why it is very important to evaluate it during the first clinical consultation, and to carefully select the patients eligible in order to limit the risk of failure. Lipomodeling of congenital breast anomalies is a technique well established, with a precise algorithm to follow, and is a procedure with low surgical risk, less scarring, cosmetic and lasting results. This technique is to be suggested as a first line treatment in all indications of congenital breast deformities, alone or combined to an implant. Therefore, it seems essential that a plastic surgeon fully master the indications and the use of fat tissue transfer procedure, in order to obtain natural and harmonious results.

Dermatologic findings in individuals with genetically confirmed Proteus syndrome.

BACKGROUND/OBJECTIVE: Proteus syndrome, caused by a mosaic activating AKT1 variant, typically presents in toddlers with progressive, asymmetric overgrowth of the skin and bones. We aimed to define the spectrum of dermatologic disease in individuals with genetically confirmed Proteus syndrome. METHODS: We conducted a retrospective review of records from dermatologic examinations of individuals evaluated at the NIH with a molecular diagnosis of Proteus syndrome. The types, prevalence, and localization of dermatologic findings were assessed. RESULTS: Fifty-one individuals (29 males, 22 females, mean age: 9 years) with clinical features of Proteus syndrome had the mosaic c.49G>A, p.Glu17Lys AKT1 variant. Fifty (98%) had at least one cutaneous feature constituting current clinical diagnostic criteria, including vascular malformations in 42 (82%), epidermal nevus in 41 (80%), volar cerebriform connective tissue nevi in 34 (67%), and adipose dysregulation in 30 (59%). Forty-nine (96%) had at least one dermatologic finding not included within the diagnostic criteria, including confluent volar skin-colored to hypopigmented papules or nodules (n = 33, 65%), papules or nodules on the digits or face (n = 27, 53%), and nonlinear epidermal nevi (n = 15, 29%). Other frequently observed features include nail changes (n = 28, 55%), hyperpigmented macules (n = 27, 53%), patchy dermal hypoplasia (n = 18, 35%), gingival/oral mucosal overgrowth (n = 17, 33%), hypopigmented macules (n = 16, 31%), dental enamel changes (n = 9, 18%), acrochordons (n = 6, 12%), and lingual overgrowth (n = 4, 8%). CONCLUSIONS: The range of mucocutaneous features occurring in Proteus syndrome is broader than previously considered. These observations may assist in earlier diagnosis and management and provide novel insights regarding the pathogenesis of the condition.

Oral Surgery in Patients With Sturge-Weber Syndrome.

ABSTRACT: The Sturge-Weber syndrome (SSW) is a congenital neurocutaneous malformation, with angiomas involving the leptomeningea and facial skin. This syndrome is characterized by corticocerebral angiomatosis, cerebral calcifications, ocular affections, mental retardation, increased risk of stroke, counterlateral hemiplegia, and seizures. Another important feature of SSW is the flameus nevus on the face. In the oral cavity, SSW appears as hemangiomatous lesions affecting the mucous membranes and occasionally the dental pulp. Gingival hyperplasia may be present due to the use of anticonvulsant drugs. The present article reports the management of 2 female patients with Sturge-Weber syndrome who required oral surgery in regions affected by hemangiomatous lesions. In the first case, no hemostatic agents were necessary. On the other hand, the second case required the use of several hemostatic agents to control hemorrhage during surgery. Both patients recovered uneventfully without episodes of bleeding or infection.

[Treatment of nevus of Ota and Ito and epidermal nevus syndrome]. / Behandlung des Naevus Ota und Ito und des Pigmentnävussyndroms.

Nevus of Ota, nevus of Ito and nevus of Hori are special melanocytic nevi that have a slate-brown or blue/grey coloring. They are pigmented disorders characterized by its heterotopic melanocytic dermal location and by blue/brown unilateral and sometimes bilateral facial patch in case of nevus of Ota, and in the supraclavicular, scapular, and deltoid region in case of nevus of Ito. It is more common in patients with Asian and dark-skinned ethnic backgrounds. Histologically, elongated, dendritic melanocytes are seen scattered mainly throughout the upper third of reticular dermis. An acquired variant is called Hori's nevus with more bilateral facial distribution, similar to melasma. Dermal melanocytosis can also occur elsewhere on the body, including inside the mouth. Despite its benign nature, patients frequently seek therapy because of its facial involvement. QS lasers are used effectively to treat these lesions. The number of treatment sessions correlates with clinical improvement. Post laser hypo- and hyperpigmentation are common side effects mainly affecting patients with darker skin.

Smartphone based multispectral imager and its potential for point-of-care testing.

We report a smartphone based multispectral imager (MSI), a promising tool for point-of-care (POC) testing, which utilizes a bio-inspired MSI chip to capture both the spectral and spatial information of a target simultaneously. As the key component for compact MSI, the proposed MSI chip mimics the structure of an insect compound-eye, wherein each sub-eye responds to a specific spectral band. This could allow a smartphone to be transformed into an MSI device that could acquire a snap-shot spectral image in a single exposure. An orthogonal polarization imaging method is adopted, to boost the capability of the smartphone MSI for chemical analysis. The feasibility and application potential of the proposed device are demonstrated non-invasively for skin lesion and dental plaque analysis. The experimental results are consistent with the physiological expectations, validating the ability of the smartphone MSI for multispectral image acquisition and further analytical determination. The chemical analysis capability, portability and cost-effectiveness of the smartphone MSI make it a promising analytical tool for POC testing, from chemical analysis to in vivo pathological diagnosis.

Hair Follicle Miniaturization in a Woolly Hair Nevus: A Novel "Root" Perspective for a Mosaic Hair Disorder.

Woolly hair nevus is a mosaic disorder characterized by unruly, tightly curled hair in a circumscribed area of the scalp. This condition may be associated with epidermal nevi. We describe an 11-year-old boy who initially presented with multiple patches of woolly hair and with epidermal nevi on his left cheek and back. He had no nail, teeth, eye, or cardiac abnormalities. Analysis of plucked hairs from patches of woolly hair showed twisting of the hair shaft and an abnormal hair cuticle. Histopathology of a woolly hair patch showed diffuse hair follicle miniaturization with increased vellus hairs.

Linear Epidermal Nevus: A Case Report With Oral and Facial Manifestations.

A 20-year-old man presented to the oral and maxillofacial surgery department for evaluation and treatment of a dentofacial deformity. On examination, it was noted that he had marked hemifacial hyperpigmented papillomatous lesions covering the upper and middle thirds of the right side of his face extending to the right upper lid. Of note, he also had extensive intraoral involvement. These features were highly suggestive of linear epidermal nevus, a congenital hamartomatous lesion of the ectoderm. Linear epidermal nevus with oral manifestations is extremely rare with very few cases reported in the medical literature.

Use of Transparent Film Dressing for Dermoscopy of Mucosal Lesions.

Genital and mucosal nevi are not uncommonly encountered in children. These type of nevi highlight challenges in performing a thorough dermoscopic examination. Contact dermoscopy can provide additional information about a nevus that non-contact dermoscopy cannot. We propose applying a sterile transparent film dressing over the dermatoscope to act as a waterproof barrier that is also impermeable to bacteria and viruses. This provides a sanitary way to evaluate nevi in genital skin as well as on other mucosal surfaces.

Hair Follicle Nevus Located on the Chin of an Infant: Case Report and Review of Literature.

Hair follicle nevi are rare, benign, congenital hamartomas that usually occur in the distribution of the first brachial arch. Histopathologically, the distinction between hair follicle nevus, trichofolliculoma, and accessory tragus has recently come into question, and it may be that they are all on a spectrum of the same condition. We report the case of a 7-day-old boy who presented with a "tag"-like lesion on his midline chin that had been present since birth. Biopsy of the lesion proved it to be a hair follicle nevus.

Porokeratotic Adnexal Ostial Nevus-Report of a Case With Unusual Clinical and Histologic Features.

An 11-year-old Tanzanian girl presented with diffuse verrucous lesions of varying morphology, scarring alopecia, and keloid scars over the face with a predilection for the ears. Physical examination revealed dark keratoderma and patches of hypopigmentation near the midline of the dorsal trunk (Figure 1a). Her forearms were densely covered by verrucous lesions with the exception of a clear linear patch on the dorsal aspect of the left forearm (Figure 1b). The perioral area was notable for white spires projecting from verrucous papules (Figure 1c) while the oral mucosa and teeth appeared normal on visual examination. The rest of her body, including the palms and soles, was covered by patchy, scaly lesions of varying severity.

Intramucosal nevus in the oral cavity.

AIM: The aim of this study is to report a clinical case of oral nevus. BACKGROUND: Nevus is a congenital or acquired benign neoplasia that can be observed in the skin or mucous membranes. It is an uncommon condition in the oral mucosa. When it does occur, the preferred location is on the palate, followed by the cheek mucosa, lip and tongue. CASE REPORT: In this case study, we relate the diagnosis and treatment of a 23-year-old female patient with an irregular, pigmented lesion of the oral mucosa that underwent excisional biopsy resulting in a diagnosis of intramucosal nevus. CONCLUSION: Nevus can appear in the oral mucosa and should be removed. CLINICAL SIGNIFICANCE: It is important for dental professionals to adequately categorize and treat pigmented lesions in the mouth.

HATS syndrome: hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings.

Hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings (HATS syndrome) is a rare developmental disorder involving the first and second branchial arches. Physical manifestations may present at birth or during early childhood. Characteristic findings include unilateral abnormalities of the face involving the bones, teeth, gums, and skin. Among the characteristic cutaneous manifestations of HATS syndrome, Becker nevus is the most common. A variety of modalities have been utilized in the treatment of HATS syndrome, but no standardized therapy has been established. We report a case of this rare condition in a 14-year-old adolescent boy.

Intraoral manifestations in a patient with Epidermal nevus syndrome.

AIM: To report rare findings of oral and periodontal manifestations in a patient with Epidermal nevus syndrome (ENS). BACKGROUND: The ENS describes the rare association of an epidermal nevus with abnormalities of central nervous system,ocular and skeletal abnormalities. Reports of oral involvement have been few. Also, most of the intraoral lesions have been reported in patients with nevi that do not fulfill the criteria for the diagnosis of ENS. CASE DESCRIPTION: This report describes a case of ENS that, in addition to cutaneous manifestations showed skeletal involvement and intraoral manifestations such as the extension of the nevi on the face intraorally involving the labial mucosa, hypoplasia, hypodontia of teeth and severe periodontal destruction. CONCLUSION: Patients with extensive epidermal nevi and systemic abnormalities should be suspected of having the ENS. Evaluation and management of patients with ENS requires a multidisciplinary team approach involving the dermatologist, pediatrician, ophthalmologist, neurologist, genetist, plastic surgeon and orthopedic services. Although uncommonly described in association with ENS, significant intraoral lesions do occur. Periodontal manifestations as in our patient, which to our knowledge has not been described in association with ENS so far, may also be present. CLINICAL RELEVANCE: Alteration of the response of periodontal tissues to dental plaque in the presence of certain systemic diseases has been reported, but not in association with ENS. Severe periodontal destruction due to exaggerated response to dental plaque was seen in the present case. Hence, emphasis on oral hygiene maintenance in such patients is essential. Patients with ENS must be evaluated periodically as they show a persistent predisposition for the development of tumors.

Schimmelpenning-Feuerstein-Mims syndrome with benign enlargement of subarachnoid space in infancy.

Schimmelpenning-Feuerstein-Mims syndrome is a rare disorder generally characterised by a craniofacial nevus with multisystemic presentations. Our patient, an infant, was brought to the emergency department in a postictal state following a first seizure episode. A physical examination showed a solitary dark brown, well-demarcated verrucous plaque extending from the patient's left temporal region to the left mandible without crossing the midline. Epibulbar choristomas were present on the ipsilateral side of the craniofacial lesion. Neuroimaging showed benign enlargement of the subarachnoid space. Due to the known risk of seizures associated with this condition, the patient was started on levetiracetam and showed adequate compliance. We present this as the first reported case of Schimmelpenning-Feuerstein-Mims syndrome with benign enlargement of the subarachnoid space in an infant presenting with seizures to emphasise the value of collaboration among multidisciplinary professionals to improve the quality of care for such patients.

Reconstruction of lower face defect or deformity with submental artery perforator flaps.

BACKGROUND: Reconstruction of lower face defects or deformity often presents as a challenge for plastic surgeons. Many methods, including skin graft, tissue expander, or free flap are introduced. Submental artery perforator flaps have been used in the reconstruction of defects or deformities of the lower face. METHODS: Between August 2006 and December 2008, 22 patients with lower face defects or deformity underwent reconstruction with pedicled submental artery perforator flaps. Their age ranged between 14 and 36 years. The perforator arteries were detected and labeled with a hand-held Doppler flowmeter. The size of flaps ranged from 4 × 6 to 6 × 7 cm, and the designed flaps included the perforator artery. RESULTS: All the flaps survived well, except 1 flap which resulted in partial necrosis in distal region and healed after conservative therapy. No other complication occurred with satisfactory aesthetic appearance of the donor site. CONCLUSIONS: The submental artery perforator flap is a thin and reliable flap with robust blood supply. This flap can reduce donor-site morbidity significantly and is a good choice for reconstructive surgery of lower face.