A 13-Year-Old Presenting With Recurrent Angioma Serpiginosum.

BACKGROUND: Angioma serpiginosum (AS) is a rare vascular abnormality consisting of proliferation and dilation of superficial blood vessels in the skin. AS typically presents in the first 2 decades of life and remains stable with time. CASE SUMMARY: We report the case of a 13-year-old female with an acquired, recurrent erythematous lesion with serpiginous borders on her left upper arm. Over several years, the lesion reappeared then disappeared 12 to 15 times. At one point, she developed a tender red nodule within the lesion; consequently, a biopsy was taken, revealing dilated telangiectatic vessels in the dermal papillae with mild, focal extravasation of erythrocytes. CONCLUSION: This case demonstrates a lesion with suggestive clinical and histological features of AS. However, this may be the first case of recurrent AS with a symptomatic episode. This case may contribute to the expanding clinical spectrum of this interesting disease entity.

Dermoscopy of acral angioma serpiginosum.

Angioma serpiginosum (AS) is an unusual vascular disorder that typically affects female patients, begins in childhood and stabilizes in adulthood and not frequently involve acral skin. We herein present a 13 year-old girl with an asymptomatic erythematous punctuate first noticed on the right palm three years ago, with a proximal serpiginous progression up to the forearm. On examination there was a nonblanching erythematous punctuate on the palm and the inner aspect of right hand and forearm. Dermoscopy showed an erythematous parallel ridge pattern with some red globules and dots spreading on a linear arrangement, and the acrosyringia openings were not affected. Histopathological study showed dilated capillaries in the dermal papillae. This feature is consistent with angioma serpiginosum (AS). To the best of our knowledge, this is the first report that shows a dermoscopic image of a palmar AS. The dermoscopic pattern described in this case could aid in the diagnosis of AS and could add a value in the differential diagnosis with vascular lesions on acral skin.

Mutation update for the PORCN gene.

Mutations in the PORCN gene were first identified in Goltz-Gorlin syndrome patients in 2007. Since then, several reports have been published describing a large variety of genetic defects resulting in the Goltz-Gorlin syndrome, and mutations or deletions were also reported in angioma serpiginosum, the pentalogy of Cantrell and Limb-Body Wall Complex. Here we present a review of the published mutations in the PORCN gene to date and report on seven new mutations together with the corresponding clinical data. Based on the review we have created a Web-based locus-specific database that lists all identified variants and allows the inclusion of future reports. The database is based on the Leiden Open (source) Variation Database (LOVD) software, and is accessible online at http://www.lovd.nl/porcn. At present, the database contains 106 variants, representing 68 different mutations, scattered along the whole coding sequence of the PORCN gene, and 12 large gene rearrangements, which brings up to 80 the number of unique mutations identified in Goltz-Gorlin syndrome patients.

Medial fronto-facial capillary malformations.

OBJECTIVE: To evaluate the characteristics of facial medial capillary malformations (CM), which differ from salmon patches by their wider extent, darker color, and incomplete resolution. STUDY DESIGN: Children were prospectively recruited from pediatric dermatology clinics and retrospectively from clinical and photographic databases. RESULTS: From June 2006 to June 2008, 84 children (56 girls; 66.6%) were included. The medial fronto-FCM (FFCM) involved the forehead and glabella (100%), upper eyelids (57.1%), nose (66.6%), philtrum (50.0%), and upper lip (22.6%). Extended forms were observed in 26.2%. A similar FFCM was observed within the family in 27.3% of cases. Outcome data showed complete regression in 10%, incomplete in 71.1%, and unchanging in 18%. An association with an extra facial CM was found 67.8%. Nape and/or occipital CM were associated in 63.8%. A median dorsal CM, mostly lumbosacral, was observed in 13.4%. An associated disease was seen in 33.3%. Neurological anomalies were observed in 9.5% (two cases of developmental delay, two of epilepsy, one of macrocephaly, one of cerebral arteriovenous malformation, one of cutis marmorata telangiectatica congenita, one of "macrocephaly- cutis marmorata telangiectatica congenita," and one of Rubinstein Taybi syndrome). No correlation between the site or the extent of the FFCM and extrafacial vascular or neurological anomaly was found. CONCLUSIONS: This study identifies a specific type of congenital medial FFCM that looks like salmon patch but has a wider median topography, a darker color, with slower and often incomplete resolution. Family cases are often observed. Despite their slow and incomplete regression, the aesthetic consequences are mild.

Congenital leukemia cutis presenting as multiple violaceous lesions in a newborn.

We present a case of congenital leukemia cutis that was the presenting sign of systemic acute myeloid leukemia. The initial diagnosis was benign hemangiomatosis because ultrasound of the liver was negative for visceral involvement. However, biopsy showed monocytic cells and led to a further workup which involved a bone marrow biopsy, giving the final diagnosis of acute myeloid leukemia with leukemia cutis. Even with a thorough knowledge of the differential diagnosis of such presenting lesions, a diagnostic biopsy is often needed for a final histologic diagnosis, to proceed with the proper course of treatment. We review congenital leukemia cutis and the differential diagnosis for violaceous lesions in the newborn that may be encountered by the pediatric plastic surgeon.

Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria.

BACKGROUND: Cutis marmorata telangiectatica congenita (CMTC) is a congenital vascular anomaly of unknown aetiology. About 300 cases have been reported in the literature. The rate of associated anomalies varies between 20% and 70%. METHODS: We report a series of 27 children with CMTC, 18 of whom were followed-up prospectively for a median of 22 months (range 2 months-5.3 years). RESULTS: Both genders were equally affected (13 male/14 female). The legs were involved in 20 cases (74%), the arms in 10 (37%), the face in 4 (15%) and the trunk in 18 (67%). There were 20 (74%) patients who presented with involvement of both trunk and limbs, a further 20 patients had lesions affecting the limb on only one side of the body, and 7 children (26%) had bilateral lesions; 1 child had generalized CMTC lesions. The involved areas covered a mean of 18% of body surface area (range 3-90). Associated anomalies were found in 15 patients (56%), with some exhibiting more than one. There was body asymmetry (hypertropy or hypotrophy of the affected limb) in nine patients (33%), seven patients had a variety of other malformations (congenital glaucoma, syndactyly, lipoma, macrocephaly, renal hypoplasia, Kartagener's syndrome), and other vascular lesions were present in four patients (15%). There was no correlation between the extent of skin lesions and likelihood of associated anomalies. On follow-up, fading of skin lesions was noted in 67% of our patients. CONCLUSION: Body asymmetry is the most common anomaly associated with CMTC; other associations might be pure chance. In order to separate CMTC from other vascular malformations, notably Klippel-Trénaunay syndrome, we suggest diagnostic criteria for their differentiation.

Macrocephaly-capillary malformation: a report of three cases and review of the literature.

Macrocephaly-Cutis Marmorata Telangiectatica Congenita (M-CMTC) is a rare syndrome that was first delineated as distinct from Cutis Marmorata Telangiectatica Congenita (CMTC) in 1997. Since that time, there have been over 75 cases reported in the literature, though few are in the dermatology literature. The syndrome is characterized by macrocephaly, neonatal hypotonia, developmental delay, segmental overgrowth, syndactyly, asymmetry, connective tissue defects, and vascular stains. We report three new patients seen at the University of Miami Genodermatoses Clinic with features of M-CMTC. We believe the skin findings in our patients and in the previously published cases of M-CMTC are more consistent with capillary malformations rather than true CMTC. Therefore, we agree with recent publications that this condition be renamed Macrocephaly-Capillary Malformation (M-CM). The differential diagnoses for patients with M-CMTC include Klippel Trenaunay Syndrome (KTS) and Proteus or Proteus-like syndromes. Given the significant prognostic and likely genetic differences among these conditions it is important to distinguish M-CMTC from these syndromes.

Angioma serpiginosum: a case report and review of the literature.

BACKGROUND: Angioma serpiginosum is a rare vascular anomaly whose pathogenesis is still unknown. It is characterized by the onset of vascular reddish macules and papules during childhood, lesions are usually monolateral with a linear serpiginous pattern. It is rarely associated with extracutaneous findings. This entity has not yet been included in the classification of the International Society for the Study of Vascular Anomalies. CASE PRESENTATION: We describe the first Italian report of angioma serpiginosum with a congenital symmetrical presentation. The patient had a further extension of macules during puberty involving both of the soles. No extracutaneous manifestations were present. Diagnosis was confirmed with dermoscopy and light microscopy that revealed the typical clusters of dilated, thickened and PAS+ capillaries in the upper dermis. Moreover, Immunohistochemistry showed positive WT-1 staining. Genetic analysis with next generation sequencing did not detected any mutation. CONCLUSIONS: Our patient presented a peculiar symmetrical and planar extension with a serpiginous linear pattern. The proliferative nature of this condition has been widely discussed in literature. In our case immunohistochemistry was positive for Wilms tumor-1, a new endothelial marker expressed during angiogenesis in reparative processes and endothelial tumors. Clinical evolution, histological and immunohistochemical findings suggest that angioma serpiginosum should be considered as a vascular proliferation. For these reasons we think it should be included in the international classification as a tumor.

A direct comparison of pulsed dye, alexandrite, KTP and Nd:YAG lasers and IPL in patients with previously treated capillary malformations.

INTRODUCTION: Several studies have reported laser treatment of Capillary Malformations (CMs) using systems other than pulsed dye lasers (PDL). Few, however, have compared different systems in the same patients. This study aimed to directly compare CM fading using five different systems. METHODS: Eighteen previously PDL-treated patients were test-patched using the alexandrite, KTP, and Nd:YAG lasers and intense pulsed light (IPL) with additional PDL patches as a control. Pre- and post-treatment videomicroscopy, and colour measurements using Munsell colour charts were carried out. RESULTS: Four patients failed to respond to any test patches. The alexandrite laser test patches had the largest mean improvement in Munsell colour following treatment (P = 0.023) and resulted in CM fading in 10 patients, although 4 patients developed hyperpigmentation, and 1 patient scarring, following treatment. In addition, the alexandrite laser caused a significant decrease in mean post-treatment capillary diameter (P = 0.007), which was not mirrored by the other systems. The KTP and Nd:YAG lasers were least effective, with fading seen in two patients for both systems, whilst IPL patches resulted in CM fading in six patients. In addition, five patients had further CM fading using double-passed PDL treatment. Mean pre-treatment capillary diameter measurements were predictive of those patients likely to respond to laser treatment. CONCLUSIONS: Alexandrite laser treatment was the most effective, but resulted in hyperpigmentation and scarring in four patients, probably due to its deeper penetration and lower specificity for oxyhaemoglobin causing non-specific dermal damage. Double passing of the PDL can result in further CM fading even in previously treated patients. Videomicroscopy measurements of capillary diameter before treatment may be predictive of the likelihood for patient's to respond to laser treatment.

Cutis marmorata telangiectatica congenita and major lower limb asymmetry.

A 39-week-old male newborn presented at birth with atrophic erythematous and purpuric skin lesions, in a typical right-sided segmental distribution. Lesions were persistent and unaffected by rewarming in the postpartum period. Postnatal echocardiogram showed a predominance of the right cavities and an upper atrial septal defect. Cerebral and abdominal ultrasound were normal along with ophthalmological examination. On follow-up, lower limbs asymmetry was noted. The right lower limb was shorter in length and had a smaller diameter. At 6 months, the right lower limb was 1.5 cm shorter than the left, most likely related to nutritive vessels malformations. The discrepancy was even more pronounced at the age of 9 months. This leg-length asymmetry can lead to severe functional limitations in the future.

Adams-Oliver syndrome with widespread CMTC and fatal pulmonary vascular disease.

We report a neonate with cutis marmorata telangiectatica congenita and clinical features of Adams-Oliver syndrome in association with severe pulmonary vascular disease. We provide an overview of cutis marmorata telangiectatica congenita, distinguishing it from cutis marmorata, a common and benign physiologic cutaneous disorder seen in neonates. We highlight the need for thorough medical evaluation in cutis marmorata telangiectatica congenita to exclude associated congenital anomalies.

Current management of hemangiomas and vascular malformations.

This article outlines the classification of vascular anomalies, which include vascular tumors and vascular malformations. We describe the nomenclature, diagnosis, and management of the different types of anomalies. Specific indications for pharmacologic and surgical intervention are discussed.