Leyre Aguado

Diagnosis and management of extensive vascular malformations of the lower limb: Part I. Clinical diagnosis

There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified. Part I of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limbs will discuss the dermatologists role in the diagnosis of these lesions. At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients.

Topical rapamycin combined with pulsed dye laser in the treatment of capillary vascular malformations in Sturge-Weber syndrome: Phase II, randomized, double-blind, intraindividual placebo-controlled clinical trial

BACKGROUND Sturge-Weber syndrome (SWS) is characterized by port-wine stains (PWS) affecting the face, eyes, and central nervous system. Pulsed dye laser (PDL) is the standard treatment for PWS. Unfortunately, recurrence is frequent because of reformation and reperfusion of blood vessels. OBJECTIVE We sought to assess the clinical efficacy of topical rapamycin combined with PDL in PWS of patients with SWS. METHODS We conducted a phase II, randomized, double-blind, intraindividual placebo-controlled, clinical trial. We recruited 23 patients with SWS and facial PWS (12 women; median age 33 years, age range 17-65 years) from the University Clinic of Navarra, Spain. Four interventions were evaluated: placebo, PDL + placebo, rapamycin, and PDL + rapamycin. Clinical and histologic responses were evaluated using a chromatographic computerized system, spectrometry, and histologic analyses at 6, 12, and 18 weeks after the intervention. RESULTS PDL + rapamycin yielded the lowest digital photographic image score and the lowest percentage of vessels in histologic analysis, and showed a statistically significant improvement compared with the other interventions. The treatment was generally well tolerated. LIMITATIONS PDL was only applied to the lateral parts of the PWS area. CONCLUSION Topical rapamycin associated with PDL seems to be an effective treatment for PWS in patients with SWS.

Diagnosis and management of extensive vascular malformations of the lower limb: Part II. Systemic repercussions, diagnosis, and treatment

At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. Extensive vascular malformations are often more complex than they appear and require a multidisciplinary therapeutic approach. Vascular malformations may be associated with underlying disease or systemic anomalies. Part II of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limb highlights the systemic repercussions [corrected] (bone, articular, visceral, and hematologic involvement), diagnosis, and treatment of these lesions.

Pulmonary Arterial Hypertension in Patients With Slow-Flow Vascular Malformations

OBJECTIVE To determine the prevalence of pulmonary arterial hypertension in asymptomatic patients with 2 types of extensive slow-flow vascular malformations: extensive venous malformations or Klippel-Trénaunay syndrome (KTS). DESIGN Case-control. SETTING Multidisciplinary center for vascular anomalies. PATIENTS A consecutive sample of 32 patients with slow-flow vascular malformations of at least 15% of the body surface was identified retrospectively and matched by age and sex with 32 healthy controls. INTERVENTIONS Standard 2-dimensional transthoracic Doppler echocardiography. Venous samples were obtained the same day that echocardiography was performed. MAIN OUTCOME MEASURES Pulmonary artery systolic pressure (PASP) was determined. Levels of D-dimer, fibrinogen, and von Willebrand factor (vWF) in plasma were measured. RESULTS Patients had a mean (SD) PASP that was significantly higher than that of healthy controls (42.16 [8.49] mm Hg in patients vs 27.69 [6.54] mm Hg in healthy controls; P < .001). No significant differences in PASP were found between patients with KTS and patients with venous malformations (P = .80). We observed significant differences in the mean (SD) levels of vWF between patients and healthy controls (124.41% [52.28%] in patients vs 92.69% [28.92%] in controls; P = .01) and also in levels of D-dimer (1032.99 [1367.0] ng/mL in patients vs 102.97 [29.39] ng/mL in healthy controls; P < .001). There was a moderate positive correlation between levels of vWF and levels of PASP (r = 0.42; P = .001) and a high positive correlation between D-dimer and PASP (r = 0.52; P < .001) CONCLUSIONS The presence of pulmonary arterial hypertension in patients with extensive slow-flow vascular malformations is not an isolated feature but is relatively frequent. Levels of D-dimer correlate with PASP in these patients.

Foot or hand malformations related to deep venous system anomalies of the lower limb in Klippel-Trenaunay syndrome

BACKGROUND Klippel-Trénaunay syndrome (KTS) is a capillary-lymphatic-venous malformation associated with soft tissue and skeletal hypertrophy of one or more limbs. Deep venous system (DVS) anomalies are reported to be present in 8% to 18% of patients with KTS; approximately 25% of patients with KTS have hand or foot malformations. OBJECTIVE We sought to assess whether the presence of hand or foot malformations in KTS is a predictor of DVS anomalies. METHODS Retrospective data were collected from 51 consecutive patients with KTS seen in a university hospital between January 2000 and February 2008. Patients with possible Proteus syndrome were not included. The presence and patency of the DVS was studied using conventional venography, multidetector computed tomography, or fast 3-dimensional magnetic resonance imaging venography. RESULTS Seventeen hand or foot malformations were present in 9 patients, consisting of: toe macrodactyly in 5 patients (two bilateral and one with plantar expansion); toe microdactyly in one patient; finger macrodactyly in one patient; finger macrodactyly and ectrodactyly in one patient; syndactyly in 4 patients; and clinodactyly with camptodactyly of the hand of one patient with lower limb KTS. Eleven patients had DVS anomalies (one with aplasia of entire DVS; one with duplication of the superficial femoral vein; 7 with hypoplasia of femoral vein; and 7 with aplasia of the popliteal vein). All patients with hand or foot malformations also had DVS anomalies (P < .001). LIMITATIONS Small sample size was a limitation. CONCLUSION The presence of hand or foot malformations in KTS may predict the presence of DVS anomalies.

Dermoscopic “setting sun” pattern of juvenile xanthogranuloma

the Departments of Dermatology and Pathology, Univerty Clinic of Navarra, School of Medicine, Pamplona, Spain. ication of this article was supported by 3Gen. ing sources: None. licts of interest: None declared. spondence to: Maider Pretel, MD, PhD, Department of ermatology, University Clinic of Navarra, P io XII s/n, 31080 mplona, Spain. E-mail: maiderpretel@yahoo.es. J Am Acad Dermatol 2015;72:S73-5. 0190-9622/

Partial unilateral lentiginosis treated with alexandrite Q-switched laser: Case report and review of the literature

36.00 a 2014 by the American Academy of Dermatology, Inc. http://dx.doi.org/10.1016/j.jaad.2014.09.042

Efficacy of Autologous Melanocyte Transplantation on Amniotic Membrane in Patients With Stable Leukoderma: A Randomized Clinical Trial.

Abstract Partial unilateral lentiginosis (PUL) is a rare pigmentary disorder characterized by multiple lentigines grouped within an area of normal skin, often in a segmental pattern and appearing at birth or in childhood. There is no established standard treatment for this condition. We present two cases of PUL succesfully treated with alexandrite Q-switched laser. In our cases, this laser proved to be a safe and effective treatment for cosmetically disfiguring lentigines. Special precautions are needed when treating dark-skinned patients because side effects are more likely. We propose that this modality be considered in the treatment of this rare disorder.

A new KRT16 mutation associated with a phenotype of pachyonychia congenita

Efficacy of Autologous Melanocyte Transplantation on Amniotic Membrane in Patients With Stable Leukoderma: A Randomized Clinical Trial Vitiligo is a disfiguring disease with no definitive treatment options that significantly affects patients’ quality of life. We aimed to compare, for what we believe to be the first time, the repigmentation efficacy of cultured epidermal cell suspension (CES) and amniotic membrane (AM)–cultured epidermal cell grafting (CEG) in the treatment of stable vitiligo.

Adult dermatomyositis associated with lipodystrophy.

Pachyonychia congenita is a rare, autosomal dominant genetic disease characterized by painful palmoplantar keratoderma and hypertrophic nail dystrophy. This disorder is caused by mutations in any one of five cytoskeletal keratin proteins, K6a, K6b, K6c, K16 and K17. Here, we describe a new p.Leu421Pro (c.1262T>C) mutation in the highly conserved helix termination motif of K16 in a large Spanish family. Bioinformatic analyses as well as previous descriptions in the literature of homologous mutations in other keratin‐coding genes show that this mutation is probably causative of the disease.