Encephalocraniocutaneous Lipomatosis: A Case Report.

ABSTRACT: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome and subclassification of oculoectodermal syndrome. Encephalocraniocutaneous lipomatosis may be associated with postzygotic mutations. However, absence of an identifiable mutation does not preclude a diagnosis of ECCL. Encephalocraniocutaneous lipomatosis commonly causes skin, eye, and central nervous system anomalies. Diagnosis can be made through genetic sequencing or standardized clinical criteria. One clinically apparent major criterion for the diagnosis of ECCL is nevus psiloliparus (NP), a fatty nevus with overlying nonscarring alopecia. In this case, a 50-day-old female infant with uncomplicated birth history presented to dermatology clinic for evaluation of 2 superficial cranial masses that had been present since birth without regression or evolution. One of the masses was located within the hairline and demonstrated overlying nonscarring alopecia, suspicious of NP. Because of concern for ECCL, brain magnetic resonance imaging was ordered and revealed 2 intracranial lipomas. Genetic testing was inconclusive. Excision of the masses was performed at the request of the parents for cosmetic purposes. Histologic evaluation of the surgical specimens confirmed the diagnosis of NP and ECCL. A suspected NP should raise concern for ECCL and prompt further evaluation for systemic involvement. In particular, patients with suspected ECCL should be screened for ocular and CNS involvement. Early identification and diagnosis are important for prognostication because patients with ECCL are at increased risk of developing neoplasms of the head and neck and may require more frequent screening examinations.

Combination 1550 nm non-ablative fractional resurfacing and laser hair removal for treatment of Becker's nevi in skin types III-VI.

OBJECTIVES: Becker's nevus is a cosmetically bothersome benign hamartoma typically associated with basal layer hyperpigmentation and hypertrichosis. We herein present the largest case series characterizing treatment parameters and clinical outcomes of combined 1550 nm non-ablative fractional resurfacing and laser hair removal (long-pulsed neodymium-doped yttrium aluminum garnet or alexandrite) in the treatment of Becker's nevus. This is also the largest case series of laser treatment of Becker's nevus in Fitzpatrick skin types V and VI. METHODS: We performed a retrospective review of patients treated between 2016 and 2021. Clinical photographs were graded by three independent physicians using a 5-point visual analog scale. RESULTS: Twelve patients (mean age: 24.8 years, Fitzpatrick skin types III-VI) were treated for Becker's nevus on the face (4) or the trunk and/or extremities (8). Four patients were Fitzpatrick skin types V or VI. On average, patients received 5.3 treatments in 1-4-month intervals. Ten of the 12 patients had concomitant laser hair removal preceding same-day non-ablative fractional resurfacing (n = 7 with long-pulsed 1064 nm neodymium-doped yttrium aluminum garnet and n = 3 with long-pulsed 755 nm alexandrite). The number of treatments with each modality was determined by patient satisfaction with improvement in hyperpigmentation and hypertrichosis. At follow-up, which ranged from 6 to 40 weeks (mean 10.5 weeks), patients were given a mean improvement score of 51%-75%. No long-term adverse events were encountered in either group. Limitations include a small sample size and a lack of long-term follow-up. CONCLUSION: Combination 1550 nm non-ablative fractional resurfacing and laser hair removal is safe and efficacious in the cosmetic reduction of hyperpigmentation and hypertrichosis associated with Becker's nevus, including those with Fitzpatrick skin types V and VI.

Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a case report and review of the literature.

BACKGROUND: Epidermal nevus syndrome is a group of congenital neuroectodermal and/or mesodermal disorders characterized by the epidermal nevi in common association with cerebral, eye, skeletal, cardiovascular, and renal abnormalities. Epidermal nevus syndrome is a rare syndrome, and epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction is even rarer and has not been reported to the best of our knowledge. CASE PRESENTATION: We report the case of a 10-month-old Chinese female patient who presented to our pediatric neurologic department, University of Wenzhou medical teaching Hospital, Hangzhou. She has mobility disorders on the right limbs and recurrent seizures. She had congenital disorder accompanied by brownish-black and verrucose plaques on the right side of the face as well as extensive brownish-black plaques and brown nevi on the right side of the trunk and the right arm. Epidermal nevus syndrome was diagnosed on the basis of her symptoms. Somatic sebaceous nevi and hypoplastic defects of skin, cerebra, eyes, skeleton, and cardiovascular and renal system were observed. However, in addition to the typical clinical characteristics, the patient also has a mutation (c.109G > T) in PTCH1 gene and cerebral infarction. We present a novel case report and literature review. CONCLUSION: To our knowledge, epidermal nevus syndrome with a mutation of PTCH1 gene and cerebral infarction has not been reported previously. This case report may contribute to characterizing the phenotype of epidermal nevus syndrome, help clinicians be aware of the association of this condition with PTCH1 gene and cerebral infarction, raise clinical suspicion, and improve early therapy.

Disruption of tp53 leads to cutaneous nevus and melanoma formation in Xenopus tropicalis.

In humans, germline TP53 mutations predispose carriers to a wide spectrum of cancers, which is known as Li-Fraumeni syndrome (LFS). To date, the association of melanomas with LFS remains unestablished. No melanomas have been reported in any P53-modified mouse models either. In this study, we show that targeted disruption of P53 at the DNA-binding domain in Xenopus tropicalis recapitulates LFS, with the formation of soft-tissue sarcomas and pancreatic ductal adenocarcinoma. Interestingly, 19% of the 14-month-old tp53Δ7/Δ7 homozygotes and 18% of tp53+/Δ7 heterozygotes spontaneously developed small nevi and non-invasive melanomas. Large invasive melanomas were also observed in other older homozygous mutants, with about 7.9% penetrance. Our data suggest that more dermatologic investigation of LFS patients should be able to settle the association of melanoma with LFS in epidemiology. Our model is also valuable for further investigation of the molecular mechanism underlying melanoma progression upon germline alteration of the tp53 locus.

Malignant transformation of nevus sebaceous to basal-cell carcinoma: Case series, literature review, and management algorithm.

Nevus sebaceous (NS) is a common congenital hamartoma of the skin composed predominantly of sebaceous glands. Although most NS are benign skin tumors, malignant transformations have been reported. There is still controversy about the lifetime risk of malignant degeneration and precise surgical criteria. This study reports cases of malignant degeneration and suggests a surgical treatment algorithm. The medical records of patients with basal-cell carcinoma (BCC) arising from NS between January 2001 and January 2021 were retrospectively reviewed. Patient demographics including lesion location, and tumor size were investigated. The symptoms, histological findings before and after excision, complications, and recurrence during 2-year follow-up periods were investigated. Ten patients were identified with BCC arising from NS lesions. All patients were female and the mean age was 52.11 years. All patients complained of sudden morphological changes, the most common type being rapid color changes. Two cases had histological findings that showed a miss-match between punch biopsy and excisional biopsy results. No recurrence was detected 2 years after surgeries in any patients. Cases after third stage, especially in over 40 years who report morphologic changes, should undergo total surgical excision as the first approach, with strong suspicion of malignant degeneration.

A review of nevus-associated melanoma: What is the evidence?

Cutaneous melanoma may have an adjacent nevus remnant on histological examination in 30% of cases (nevus-associated melanoma, NAM), while it may appear de novo, without a precursor lesion, in the remaining 70% of cases. Nevus-associated melanoma and the concept of acquired melanocytic nevi serving as precursors of melanoma has long been considered as a controversial topic. This controversy is, in part, due to their overall low rate of transformation to melanoma and scarce data on the natural history of progression. Another matter of debate regarded the possibility that the reported differences in NAM vs. de novo melanoma were due to an underestimation of NAM in thicker lesions due to obliteration of the nevus component by the tumour. During the last few years, several evidence has accumulated in order to address these controversies. In this review, we present a comprehensive synthesis of the epidemiological, clinical, dermoscopic and genetic findings in NAM, including thin NAM, compared to de novo melanoma. Answering the questions on nevus-associated melanoma may provide further insight into the classification of these tumours and disentangle their biology and route of development from that of de novo melanoma.

Lumbar paravertebral tumor in a newborn: congenital lipomatous nevus. / Tumoración paravertebral lumbar en el recién nacido: nevus lipomatoso congénito.

INTRODUCTION: Skin lesions in close proximity to the lumbosacral region should be assessed in newborns, since they may be the first sign of hidden spinal dysraphism. CLINICAL CASE: We present the case of a newborn without significant prenatal history. On the first day of life, a 1 cm diameter nodular lesion was found at the lumbar level of the right paravertebral region, with a vascular stain surrounding the base of the lesion. Neurological examination was normal. A soft tissue ultrasonography was carried out. It showed no continuity with the lumbar spinal canal. As a result of the lesion increasingly growing, resection was decided upon six months later. Pathological examination confirmed diagnosis - Hoffmann-Zurhelle nevus. DISCUSSION: Hoffmann-Zurhelle nevus is an infrequent cutaneous hamartomatous lesion in newborns. Treatment is always surgical in order to avoid potential growth-related complications.

INTRODUCCION: Las lesiones en la piel de los recién nacidos situadas en la proximidad de la región lumbosacra deben estudiarse, ya que, en ocasiones son la primera manifestación de un disrafismo espinal oculto. CASO CLINICO: Recién nacido sin antecedentes prenatales de interés. En su primer día de vida se observa una lesión nodular de un centímetro de diámetro situada en la región paravertebral derecha a nivel lumbar con una mancha vascular envolviendo la base de la lesión. Examen neurológico normal. Se realiza una ecografía de partes blandas donde no se evidencia continuidad con el canal medular lumbar. Seis meses más tarde debido al crecimiento progresivo de la lesión se decide su resección. La anatomía patológica confirma su diagnóstico: nevus de Hoffmann-Zurhelle. COMENTARIOS: El nevus de Hoffmann-Zurhelle es una lesión cutánea hamartomatosa infrecuente en los recién nacidos. El tratamiento es siempre quirúrgico para evitar posibles complicaciones relacionadas con su crecimiento.

Deadbolt cataract due to misplanted minishunt.

A 62-year-old woman with stable unilateral glaucoma in the left eye presented for a cataract consultation. In 2010, laser peripheral iridotomies (LPI) were performed on both eyes by a different provider. Her postoperative course was complicated by a recalcitrant steroid response with a highest intraocular pressure (IOP) of 65 mm Hg in the left eye. A trabeculectomy with a glaucoma minishunt (EX-PRESS, Alcon) was then performed by that provider (Supplemental Figure 1, http://links.lww.com/JRS/A603). Thereafter, IOP control of the left eye was normalized and maintained without topical antiglaucoma medications. Historically, her right eye has been always her better eye. Recently, she noticed metamorphopsia in her left eye. Her ocular history was also notable for high refractive errors requiring continuous spectacles wear, possible mild refractive amblyopia of the left eye, history of submacular choroidal nevus with drusen in the right eye, and an epiretinal membrane (ERM) with macular pucker in the left eye. Her husband is an optician. Both inquire about refractive cataract surgery options to correct astigmatism and presbyopia; both have reservations regarding cost and visual quality associated with diffractive optic intraocular lenses (IOLs). Her deteriorating visual acuity in both eyes affects her ability to work. Her corrected distance visual acuity was 20/40 in both eyes (pinhole, no help) while wearing spectacles according to a prescription of -8.50 diopters (D) +1.50 D × 106 for the right eye and -13.00 D +3.25 D × 057 for the left eye. Her corrected near visual acuity was 14/14 in both eyes with the abovementioned prescription and a +3.00 D add. Central corneal thickness was 618 µm in the right eye and 631 µm in the left eye. IOP was 20 mm Hg in the right eye and 10 mm Hg in the left eye on no antiglaucoma medications. Pertinent findings on slitlamp examination included bilateral dermatochalasis, a shallow diffuse thick bleb superiorly in the left eye only, patent LPI superiorly in both eyes, nuclear sclerotic and cortical cataracts in both eyes (with prominent focal spoke superiorly left eye only) (Figure 1, A-C). Fundus photos show posterior vitreous detachment in both eyes, ERM with macular pucker in the left eye, and submacular choroidal nevus (2.5 × 3.0 disc diameter size) with overlying drusen in the right eye (Supplemental Figure 2, A, http://links.lww.com/JRS/A604). Gonioscopy revealed open angles in both eyes, albeit with focal narrowing without synechiae superiorly in the left eye only (Figure 1, D-FJOURNAL/jcrs/04.03/02158034-202207000-00020/figure1/v/2022-06-24T130746Z/r/image-tiff). Most importantly, however, the distal tip of the minishunt was not positioned as expected in the anterior chamber; rather, it was noted to pierce the peripheral iris near the iris root superiorly. Most of the minishunt shaft and spur were positioned in the posterior chamber with the distal tip penetrating into the superior aspect of the capsular bag and cataract in the left eye-like a deadbolt. Visual field testing showed a full field in the right eye and an inferior nasal step in the left eye (Supplemental Figure 2, B, http://links.lww.com/JRS/A604). In addition to slitlamp, gonioscopic, and fundus photos, we also obtained optical coherence tomography of the macula and nerve (Supplemental Figure 2, C, http://links.lww.com/JRS/A604), optical biometry, ultrasound biomicroscopy, endothelial cell counts, and corneal topography (Supplemental Figure 3, http://links.lww.com/JRS/A605). How would you counsel this patient regarding her glaucoma condition, the misplanted minishunt, and her cataract surgery and IOL options? How would you manage the misplanted minishunt? What surgical approaches or specific techniques would you consider for cataract removal and visual rehabilitation?

Phakomatosis pigmentovascularis type â ¢a mainly manifested by zosteriform nevus spilus: A case report with dermoscopic features.

A case of phakomatosis pigmentovascularis (PPV) type III a with a zosteriform distribution of nevus spilus as the main manifestation was reported. A 41-year-old man was born with a zosteriform distribution of pigmented rash on the left half-body, namely upper limb, shoulder and back. Physical examination revealed light brown pigments in a giant zosteriform distribution on the extensor side of the left upper limb and the left shoulder and back, with scattered brown spots and patches of variant sizes on the surface, which are consistent with the appearance of nevus spilus (NS). A relatively small area of dark red patch occurred on the left anterior shoulder, which showed telangiectasia and fading after pressing. It was consistent with the performance of a port-wine stain (PWS). Dermoscopy showed a clearer appearance and localized fusion of blood vessels and pigmented patch. He has no systemic involvement. The patient was diagnosed with phakomatosis pigmentovascularis type Ⅲa. NS and PWS can be treated with lasers if required.

Improvement of Unilateral Breast Hypoplasia With Oral Spironolactone in a Patient With Becker Nevus Syndrome.

Becker nevus (BN) is a benign cutaneous smooth muscle hamartoma that presents with a hyperpigmented patch or plaque with or without hypertrichosis.1 BN may be associated with ipsilateral breast hypoplasia or other musculoskeletal abnormalities, an association which has been termed Becker nevus syndrome (BNS).

Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations.

Cutis marmorata telangiectatica congenita (CMTC) is characterized by coarse-meshed capillary malformations arranged in asymmetrically distributed patches. The disorder may be associated with hyper- or hypoplastic limbs, syndactyly, cleft palate, and glaucoma. Because the disease usually occurs sporadically, the concept of a lethal mutation surviving by mosaicism was proposed about 30 years ago. Here we describe three children with CMTC due to a postzygotic GNA11 mutation c547C > T (p.Arg183Cys), documented in saliva (patient 1) or lesional cutaneous tissue (patients 2 and 3). All three individuals had widespread and asymmetric CMTC which was present from birth and became fainter during the first years of life. Variably associated anomalies included glaucoma, choroidal capillary malformation, and body asymmetry. In previous case reports, postzygotic GNA11 mutations were documented in two cases of phacomatosis cesiomarmorata, being characterized by CMTC coexisting with segmental dermal melanocytosis. Moreover, postzygotic GNA11 mutations were noted in two CMTC patients described under the incorrect diagnosis of "nevus vascularis mixtus". Hence, the present cases convincingly support the concept that CMTC can be caused by mosaic GNA11 mutations and thus belongs to the GNA11-Related Capillary Nevus (GNARCAN) spectrum. In two other bona fide cases of CMTC, however, we were unable to find a mutation in GNA11, which may be explained either by our inability to detect a very low percentage of mutant cells or by genetic heterogeneity of the phenotype.

Factors associated with sunbed use among 3692 outpatients in 18 centers of the Italian Cancer League (LILT).

Indoor tanning is associated with an increased risk of skin cancer. Nonetheless, its use is still widespread. We aimed to investigate the socio-demographic and clinical characteristics of sunbed users in a group of participants in the skin cancer prevention campaign organized by the Italian Cancer League (LILT). During almost 2 years, 4409 individuals were screened in 18 centers. Participants reported having used sunbeds before the age of 15 years in 2.2% of cases, while after age 15 the prevalence of use was 22.2%. Participants with complete information were 3692. Sunbed users aged > 15 years were significantly more frequently females, young, living in Northern Italy, highly educated, and current or former smokers. They had darker phototype, more common nevi, had used sunbeds more frequently before the age of 15, reported a history of sunburns, and use of sunscreens. Indoor tanning is an important public health issue and a relevant target for primary prevention. However, not all countries have adopted the recommendations issued by the World Health Organization (WHO) on health risks associated with artificial tanning. A deeper insight into the topic may contribute to identify the best prevention strategies.

Orthopedic issues in vascular anomalies.

Vascular anomalies impact the musculoskeletal system dependent on the tissue involved (skin, subcutis, muscle, cartilage, or bone), the extent of involvement, and the type of anomalous vessels (arteries, capillaries, veins, or lymphatics). These malformations can cause a multitude of musculoskeletal problems for the patient. Leg-length discrepancy, intra-articular involvement, muscular lesions, and primary or secondary scoliosis are amongst the issues that patients face. All of these problems can cause pain, deformity, and a range of functional limitations. Surgical and nonsurgical treatment plans have a role in patient care. Patients with vascular anomalies may also suffer from life-threatening cardiovascular and hematologic abnormalities. For those patients who undergo surgery, the thromboembolic risk is elevated, wound breakdown and infection are much more common, and bleeding risk continues well into the postoperative course. Because of the complex nature of these disorders, the clinician must have a full understanding of the types of lesions, their natural history, appropriate diagnostic studies, associated medical problems, indications for treatment, and treatment options. For severe malformations, especially syndromes such as CLOVES and Klippel- Trenaunay syndrome, interdisciplinary team management is essential for the best outcomes.

Eccrine mucinous nevus: clinical and histopathological description in an adult Nevus mucinoso ecrino en el adulto: descripción clínicohistológica.

Eccrine mucinous nevus is an uncommon hamartoma whose histological diagnosis is simple because of its peculiar morphological features, which include an increase in the number and/or size of the glands and eccrine ducts accompanied by abundant mucin deposits. When it presents with the typical symptom, focal hyperhidrosis, clinical suspicion is possible. El nevus mucinoso ecrino (NME) es un hamartoma escasamente reportado en la literatura cuyo diagnóstico histológico es sencillo debido a sus peculiares rasgos morfológicos, que incluye un aumento del número y/o tamaño de las glándulas ductos ecrinos acompañado de abundante depósito de mucina. Cuando presenta los hallazgos típicos, como la hiperhidrosis focal, es posible su sospecha clínica.

Case of melorheostosis associated with ipsilateral verrucous epidermal nevus, linear connective tissue nevus, diffuse hyperpigmentation and hypertrichosis: A fortuitous coincidence?

Melorheostosis (MEL) is a rare benign bone disorder that can be associated with several anomalies, including vascular abnormalities, nevus sebaceus, unilateral nevoid telangiectasia, linear scleroderma and hypertrichosis. We report the case of a 6-year-old patient who showed an unusual co-occurrence of bone hyperostosis and different skin lesions affecting the same side of the body: MEL, verrucous epidermal nevus, connective tissue nevus, linear scleroderma-like disorder, hyperpigmentation and hypertrichosis. The spatial co-occurrence of these conditions made us speculate as to whether they originated from a common genetic mechanism or if their co-occurrence was completely accidental.