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2.
Hum Mol Genet ; 21(20): 4549-57, 2012 Oct 15.
Article in English | MEDLINE | ID: mdl-22814393

ABSTRACT

Recent genome-wide association studies (GWASs) have identified >20 new loci associated with the susceptibility to psoriasis vulgaris (PsV) risk. We investigated the association of PsV and its main clinical subphenotypes with 32 loci having previous genome-wide evidence of association with PsV (P < 5e-8) or strong GWAS evidence (P < 5e-5 in discovery and P < 0.05 in replication sample) in a large cohort of PsV patients (n = 2005) and controls (n = 1497). We provide the first independent replication for COG6 (P = 0.00079) and SERPINB8 (P = 0.048) loci with PsV. In those patients having developed psoriatic arthritis (n = 955), we found, for the first time, a strong association with IFIH1 (P = 0.013). Analyses of clinically relevant PsV subtypes yielded a significant association of severity of cutaneous disease with variation at LCE3D locus (P = 0.0005) in PsV and nail involvement with IL1RN in purely cutaneous psoriasis (PsC, P = 0.007). In an exploratory analysis of epistasis, we replicated the previously described HLA-C-ERAP1 interaction with PsC. Our findings show that common genetic variants associated with a complex phenotype like PsV influence different subphenotypes of high clinical relevance.


Subject(s)
Genetic Variation , Phenotype , Psoriasis/genetics , Adaptor Proteins, Vesicular Transport/genetics , Adaptor Proteins, Vesicular Transport/metabolism , Alleles , Aminopeptidases/genetics , Aminopeptidases/metabolism , Case-Control Studies , Genetic Predisposition to Disease , Genome-Wide Association Study , Genotype , HLA-C Antigens/genetics , HLA-C Antigens/immunology , Humans , Interleukin 1 Receptor Antagonist Protein/genetics , Male , Minor Histocompatibility Antigens , Skin/immunology , Skin/metabolism
4.
J Cutan Pathol ; 39(7): 707-11, 2012 Jul.
Article in English | MEDLINE | ID: mdl-22612305

ABSTRACT

Gemcitabine is a deoxycytidine analog antimetabolite that is now accepted as first-line treatment for advanced and metastatic pancreatic carcinoma. Gemcitabine-related thrombotic microangiopathy associated with systemic hemolytic-uremic syndrome or thrombotic thrombocytopenia purpura has rarely been described. Herein, we report a patient who developed a livedoid thrombotic microangiopathy with no signs of associated hemolytic-uremic syndrome. Cutaneous thrombotic microangiopathy occurred after the administration of his 17th cycle and a cumulative dose of 53.65 g/m(2) of gemcitabine. Some authors have suggested that this toxicity may be dose-related, and a 10th cycle or a cumulative dose of 9-56 g/m(2) have been proposed as the prothrombotic threshold. Interestingly, dermatopathologic findings were limited to the subcutis and they consisted of small-vessel occlusion by intravascular fibrin and leukocytes, vessel wall thickening and endothelial cell swelling. Surprisingly, we observed some structures arranged radially with needle-shaped clefts resembling those of sclerema neonatorum. Awareness of this potential cutaneous toxicity by dermatologists and dermatopathologists is extremely important.


Subject(s)
Antimetabolites, Antineoplastic/adverse effects , Deoxycytidine/analogs & derivatives , Fibrin/metabolism , Leukocytes , Skin/pathology , Thrombotic Microangiopathies , Antimetabolites, Antineoplastic/administration & dosage , Deoxycytidine/administration & dosage , Deoxycytidine/adverse effects , Humans , Leukocytes/metabolism , Leukocytes/pathology , Male , Middle Aged , Thrombotic Microangiopathies/chemically induced , Thrombotic Microangiopathies/metabolism , Thrombotic Microangiopathies/pathology , Gemcitabine
5.
J Am Acad Dermatol ; 67(2): 240-4, 2012 Aug.
Article in English | MEDLINE | ID: mdl-22000705

ABSTRACT

BACKGROUND: Previous reports on the prevalence of autosomal recessive congenital ichthyosis (ARCI) were based on single source data, such as lists of members in a patient association. These sources are likely to be incomplete. OBJECTIVES: We sought to describe the prevalence of ARCI. METHODS: We obtained data from 3 incomplete sources (dermatology departments, a genetic testing laboratory, and the Spanish ichthyosis association) and combined them using the capture-recapture method. RESULTS: We identified 144 living patients with ARCI. Of these, 62.5% had classic lamellar ichthyosis and 30.6% had congenital ichthyosiform erythroderma. The age distribution included fewer elderly patients than expected. The prevalence of ARCI in patients younger than 10 years, the best estimate as less subject to bias, was 16.2 cases per million inhabitants (95% confidence interval 13.3-23.0). According to the capture-recapture model, 71% of the patients were not being followed up in reference units, 92% did not have a genetic diagnosis, and 78% were not members of the ichthyosis association. LIMITATIONS: The prevalence of ARCI in Spain and findings related to the Spanish health care system might not be generalizable to other countries. CONCLUSIONS: The prevalence of ARCI is higher than previously reported. Many patients are not being followed up in reference units, do not have a genetic diagnosis, and are not members of a patient association, indicating room for improvement in their care. Data suggesting a reduced number of older patients might imply a shorter life expectancy and this requires further study.


Subject(s)
Databases, Factual/statistics & numerical data , Ichthyosiform Erythroderma, Congenital/epidemiology , Ichthyosis, Lamellar/epidemiology , Adolescent , Adult , Age Distribution , Aged , Aged, 80 and over , Child , Child, Preschool , Epidemiologic Methods , Female , Humans , Ichthyosiform Erythroderma, Congenital/genetics , Ichthyosis, Lamellar/genetics , Infant , Infant, Newborn , Male , Middle Aged , Prevalence , Referral and Consultation/statistics & numerical data , Spain/epidemiology , Young Adult
7.
Am J Dermatopathol ; 33(2): e21-3, 2011 Apr.
Article in English | MEDLINE | ID: mdl-21317612

ABSTRACT

Circumscribed palmar and plantar hypokeratosis (CPPH) is a recently described skin condition with particular clinical and histopathological findings. The etiopathogeny of CPPH is still unclear, but an abnormal clone of keratinocytes has been postulated as the possible origin. CPPH has been considered an entity with no potential malignant transformation, but recently, it has been recognized in association with signs of actinic keratosis in the same biopsy. CPPH has never been recognized in association with porokeratosis. Although these entities seem to be different, a possible relationship between them might be suggested.


Subject(s)
Hand Dermatoses/pathology , Porokeratosis/pathology , Aged , Female , Humans
8.
J Cutan Pathol ; 38(4): 360-4, 2011 Apr.
Article in English | MEDLINE | ID: mdl-20860730

ABSTRACT

Although non-specific skin lesions are quite common in patients with leukemia, the specific infiltration of the skin by blast cells, known as leukemia cutis, is rare. Its incidence ranges from 1 to 50% and depends on the specific type of leukemia. Leukemic vasculitis represents a rare form of leukemia cutis consisting of the involvement and destruction of vessel walls by leukemic cells, which in themselves cause the vascular injury. To date, only few cases of leukemic vasculitis have been described. Here, we report two cases of this rare skin condition, one of which mimicked cutaneous polyarteritis nodosa.


Subject(s)
Leukemia/pathology , Leukemic Infiltration/pathology , Skin/pathology , Vasculitis/pathology , Aged , Female , Humans , Male , Middle Aged
10.
J Am Acad Dermatol ; 64(3): 573-8, 578.e1, 2011 Mar.
Article in English | MEDLINE | ID: mdl-20691500

ABSTRACT

BACKGROUND: Onychomatricoma (OM) is a rare benign tumor of the nail matrix in which genome-wide analyses have never been performed. It is clinically characterized by an increased transversal curvature of the nail plate, a longitudinal yellowish discoloration, and splinter hemorrhages. Once the nail plate has been removed, fingerlike fibrokeratogenous projections appear through the proximal nailfold. Histologically, it is a fibroepithelial tumor with well-established features. In this article, a comprehensive review of this tumor is made. OBJECTIVE: We performed a genome-wide analysis of an OM, in an attempt to shed light on the mechanisms underlying its development. METHODS: We report a 36-year-old man who was given a diagnosis of OM involving his fourth right toenail. To investigate molecular genetic alterations, we carried out two approaches, fluorescent in situ hybridization and array-based comparative genomic hybridization, in our patient. RESULTS: Genomic testing of OM showed 34 genomic alterations, with most of the genomic losses being on chromosome 11. Array-based comparative genomic hybridization showed the deletion of 11p15.4, which harbors STIM-1, 11q14.2 (RP-11 292E14), which harbors the Cathepsin C gene, 11q14 (RP11-281F10-RP11-265F24), and 11q21 (RP11-203F8 and RP11 183A22). LIMITATIONS: This work is an initial approach to a genome-wide study of this tumor. Further studies (with more cases) must be conducted to pinpoint possible candidate genes for the development of OM. CONCLUSIONS: Array-based comparative genomic hybridization showed important genomic alterations in OM, especially genomic losses. Most genomic losses affected the chromosome 11 in our patient. The STIM-1 and the Cathepsin C genes might play a role in the development of OM.


Subject(s)
Nail Diseases/pathology , Nails/pathology , Skin Neoplasms/pathology , Adult , Chromosomes, Human, Pair 11/genetics , Comparative Genomic Hybridization , Genome-Wide Association Study , Humans , In Situ Hybridization, Fluorescence , Male , Nail Diseases/genetics , Skin Neoplasms/genetics
11.
Pediatr Dermatol ; 28(4): 447-50, 2011.
Article in English | MEDLINE | ID: mdl-20678097

ABSTRACT

The Buschke-Ollendorff syndrome (BOS) (MIM 166700) is a rare autosomal dominant disorder with highly variable expression that consists of multiple cutaneous elastic nevi and osteopoikilosis. It may exhibit clinical variations, and in some patients either skin or bone lesions may be absent. Recently it has been demonstrated that the heterozygous loss of function in LEMD3 can result in osteopoikilosis, BOS, and melorheostosis. We have studied three generations in a family with BOS with a variable phenotype. The genetic analyses revealed a heterozygous c.2203C>T nonsense mutation at the LEMD3 locus. The mutation induces a change in the 735 arginine codon to a stop codon. This study shows the wide phenotypic variation in BOS and increases the repertory of mutations described to date in LEMD3.


Subject(s)
Codon, Nonsense , Membrane Proteins/genetics , Nuclear Proteins/genetics , Osteopoikilosis/genetics , Skin Diseases, Genetic/genetics , Adult , Aged , Base Sequence , Child , DNA-Binding Proteins , Female , Heterozygote , Humans , Male , Osteopoikilosis/pathology , Skin/pathology , Skin Diseases, Genetic/pathology
12.
Am J Dermatopathol ; 32(1): 86-90, 2010 Feb.
Article in English | MEDLINE | ID: mdl-19940751

ABSTRACT

Amyloid elastosis is a rare form of cutaneous amyloidosis characterized histologically by the deposition of amyloid-coating elastic fibers of the skin. To date, only 4 cases have been reported, all of them in the setting of systemic amyloidosis. We present the first case of primary cutaneous localized amyloid elastosis.


Subject(s)
Amyloidosis/pathology , Facial Dermatoses/pathology , Adult , Amyloid/metabolism , Amyloidosis/genetics , Amyloidosis/metabolism , Amyloidosis/therapy , Elastic Tissue/pathology , Facial Dermatoses/genetics , Facial Dermatoses/metabolism , Facial Dermatoses/therapy , Gene Rearrangement , Humans , Immunoglobulin Heavy Chains/genetics , Male , Radiotherapy, Adjuvant , Treatment Outcome
13.
Dermatol Surg ; 35(12): 1942-6, 2009 Dec.
Article in English | MEDLINE | ID: mdl-19889006

ABSTRACT

BACKGROUND: Venous lakes (VLs) are common benign ectasias in the upper dermis, usually observed in older people. Different treatment strategies have been described as useful, such as cryosurgery, excision, and various types of laser. OBJECTIVE: We report our experiences using a multiwavelength laser, which has not been previously described. PATIENTS AND METHODS: Thirty-nine VLs in 30 patients were treated. Treatment with 595-nm pulsed-dye laser was conducted at 20 ms and 10 J/cm(2), followed by 1,064-nm neodymium-doped yttrium aluminum garnet laser at 20 ms and 70 J/cm(2). RESULTS: Complete resolution was observed in 38 lesions (95%). No complications after treatment were noted. One case developed a small scar. CONCLUSIONS: Multiwavelentgh laser (595 nm; 1,064 nm) provides a safe, fast, and effective option in the treatment of VLs.


Subject(s)
Dilatation, Pathologic/radiotherapy , Low-Level Light Therapy , Vascular Diseases/radiotherapy , Veins/radiation effects , Adult , Aged , Aged, 80 and over , Female , Humans , Lasers, Dye , Male , Middle Aged , Young Adult
14.
J Am Acad Dermatol ; 59(3): 455-63, 2008 Sep.
Article in English | MEDLINE | ID: mdl-18694678

ABSTRACT

BACKGROUND: New topical treatments in scalp psoriasis are needed because many current topical treatments are disliked by patients and associated with poor compliance. OBJECTIVE: To compare the efficacy and safety of once-daily, two-compound scalp formulation containing calcipotriene plus betamethasone dipropionate with the individual components in the same vehicle and the vehicle alone. METHODS: In this 8-week, multicenter, randomized, double-blind study, patients with scalp psoriasis were randomized to treatment with the two-compound scalp formulation (calcipotriene 50 microg/g plus betamethasone 0.5 mg/g, as dipropionate) (n = 541), betamethasone 0.5 mg/g (as dipropionate) in the same vehicle (n = 556), calcipotriene 50 microg/g in the same vehicle (n = 272), or vehicle alone (n = 136). RESULTS: More patients achieved "absent" or "very mild" disease at week 8 with the two-compound scalp formulation (71.2%) compared with betamethasone dipropionate in the same vehicle (64.0%, p = .011), calcipotriene in the same vehicle (36.8%, p < .0001), or the vehicle (22.8%, p < .0001). LIMITATIONS: Efficacy of the active comparators in the study has not been established in relation to calcipotriene and betamethasone formulations available for clinical use. CONCLUSION: Calcipotriene plus betamethasone dipropionate scalp formulation was more effective than either of the individual components or the vehicle alone.


Subject(s)
Anti-Inflammatory Agents/administration & dosage , Betamethasone/analogs & derivatives , Calcitriol/analogs & derivatives , Dermatologic Agents/administration & dosage , Psoriasis/drug therapy , Scalp Dermatoses/drug therapy , Administration, Cutaneous , Adolescent , Adult , Aged , Aged, 80 and over , Betamethasone/administration & dosage , Betamethasone/adverse effects , Calcitriol/administration & dosage , Calcitriol/adverse effects , Double-Blind Method , Drug Combinations , Female , Humans , Male , Middle Aged , Pharmaceutical Vehicles , Psoriasis/pathology , Scalp Dermatoses/pathology , Severity of Illness Index , Skin/pathology , Treatment Outcome
15.
Am J Dermatopathol ; 27(3): 240-2, 2005 Jun.
Article in English | MEDLINE | ID: mdl-15900130

ABSTRACT

Adenolipoma is a rare microscopic variant of cutaneous lipoma composed of large lobules of mature adipocytic tissue admixed with eccrine ducts and glands. We report a new case of cutaneous adenolipoma, and the first showing an apocrine cystic glandular component. This lesion may not be a specific entity, and could represent entrapment of epithelial structures within a lipoma.


Subject(s)
Apocrine Glands/pathology , Lipoma/pathology , Skin Neoplasms/pathology , Adult , Apocrine Glands/metabolism , Diagnosis, Differential , Female , Humans , Immunohistochemistry , Lipoma/metabolism , S100 Proteins/metabolism , Skin Neoplasms/metabolism
16.
Actas dermo-sifiliogr. (Ed. impr.) ; 95(8): 511-514, oct. 2004. ilus
Article in Es | IBECS | ID: ibc-34960

ABSTRACT

La forma acrómica de micosis fungoide es una variante poco frecuente de linfoma cutáneo de células T que se ha descrito con mayor frecuencia en pacientes de piel oscura y niños. Se presenta un caso de micosis fungoide acrómica en un varón de raza blanca de 23 años cuyas lesiones se caracterizaban por placas hipopigmentadas en la raíz de las extremidades inferiores. Hasta el momento actual se han descrito únicamente 16 casos de micosis fungoide acrómica en pacientes de raza blanca (AU)


Subject(s)
Adult , Male , Humans , Mycosis Fungoides/pathology , Adrenal Cortex Hormones/therapeutic use , White People , Biopsy , Mycosis Fungoides/drug therapy
17.
Actas dermo-sifiliogr. (Ed. impr.) ; 94(8): 559-562, oct. 2003. ilus
Article in Es | IBECS | ID: ibc-24834

ABSTRACT

El fibroblastoma de células gigantes es un tumor mesenquimal benigno de origen desconocido que suele aparecer en las dos primeras décadas de la vida. Aunque tiende a recidivar localmente, su capacidad metastásica no se ha confirmado. Se presenta el caso de un varón de 6 años de edad, remitido desde el servicio de cirugía plástica a nuestra consulta por presentar una lesión tumoral sobre cicatriz quirúrgica en región inguinal izquierda. El paciente había sido intervenido hacía 2 meses de una tumoración en esa localización, que fue clasificada como fibroblastoma de células gigantes. La biopsia cutánea realizada confirmó la sospecha de recidiva local del tumor. Se revisan las características clinicopatológicas e histogenéticas de este tumor, así como las distintas opciones terapéuticas (AU)


Subject(s)
Male , Child , Humans , Groin/pathology , Abdominal Neoplasms/pathology , Skin Neoplasms/pathology , Fibromatosis, Abdominal/pathology , Cicatrix/pathology , Neoplasm Recurrence, Local/pathology , Carcinoma, Giant Cell/pathology , Microsurgery/methods
18.
Mol Genet Metab ; 79(2): 146-8, 2003 Jun.
Article in English | MEDLINE | ID: mdl-12809647

ABSTRACT

Papillon-Lefèvre syndrome (PLS) is an inherited human disorder characterised by premature destruction of the periodontium of the deciduous and permanent teeth, palmoplantar hyperkeratosis, and increased susceptibility to bacterial infections during the first years of life. In this paper two PLS families have been studied. Family 1 presents a novel homozygous mutation (880T>C) in exon 6 causing Y294H amino acid substitution. Family 2 shows a previously described non-sense homozygous punctual change (72C>A) that introduces a termination codon at the extracellular domain of the protein (C24X).


Subject(s)
Cathepsin C/genetics , Papillon-Lefevre Disease/genetics , Amino Acid Sequence , Conserved Sequence , Female , Heterozygote , Humans , Male , Molecular Sequence Data , Mutation , Pedigree , Spain
19.
Actas dermo-sifiliogr. (Ed. impr.) ; 94(5): 309-312, jun. 2003. ilus, tab
Article in Spanish | IBECS | ID: ibc-113044

ABSTRACT

Se denomina signo de Leser-Trélat a la profusión de queratosis seborreicas secundaria a un proceso neoplásico. Aunque clásicamente el cuadro se ha incluido dentro de las dermatosis paraneoplásicas facultativas, durante las últimas décadas se ha debatido su carácter paraneoplásico. Se presenta el caso de un varón de 82 años en el que la aparición brusca de múltiples queratosis seborreicas llevó a sospechar la posibilidad de una neoplasia subyacente. Estudios posteriores nos llevaron al diagnóstico de un síndrome de Sézary asociado. La aparición simultánea de la dermatosis y el tumor y el curso evolutivo paralelo que se observa entre ambos procesos, hablan a favor de la existencia del signo de Leser-Trélat y de su importancia en la práctica clínica como marcador de neoplasia (AU)


Subject(s)
Humans , Male , Aged, 80 and over , Sezary Syndrome/complications , Keratosis, Seborrheic/complications , Skin Neoplasms/complications , Paraneoplastic Syndromes/complications
20.
Eur J Dermatol ; 12(1): 82-4, 2002.
Article in English | MEDLINE | ID: mdl-11809605

ABSTRACT

Two patients presented with nodular lesions on their lower limbs. Histologically, the dermis, in one case, and the panniculus, in the other, displayed pseudocystic lesions delimited by a serpiginous membranous structure showing the staining characteristics of ceroid. One patient had sclerosing panniculitis while the other had a traumatic panniculitis.These cases illustrate that membranous fat necrosis is a non-specific histological finding and that multiple processes are involved in its etiopathogenesis.


Subject(s)
Cysts/pathology , Fat Necrosis/pathology , Leg Dermatoses/pathology , Skin Diseases/pathology , Adult , Biopsy , Cysts/etiology , Fat Necrosis/etiology , Female , Humans , Leg Dermatoses/etiology , Male , Middle Aged , Skin Diseases/etiology
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