Epidemiología clínica de la alopecia areata

. —Since Ikeda described in 1965 her four clinical forms of alopecia areata (common, atopic, prehypertensive, combined), several epidemiological studies have deepened in the knowledge of this disease, confirming or questioning many of the initial findings. The series of cases made with inpatient samples can overlue the frequency of severe forms (total and universal alopecia) and the prognosis of alopecia areata. Studies carried out in general population gives an incidence of 20.2 new cases/100,000 people/year, and a lifetime-prevalence figure of 1.7%. Slight and moderate cases are frequent, developing a total/universal alopecia in the evolution only 7% of patients. It was described also a distribution of uniform beginning of alopecia areata in all ages, and a gender- ratio next to 1:1. Finally, current genetic studies and clinical- epidemiological ones have found two clinical forms of disease («genetic» or severe, and «benign» or stress-related), with different HLA markers, evolution, clinical presentation and relationship with psychosocial stress. However, more population studies than clarify some unclear features of disease are needed.     

Síndrome EEC

—EEC syndrome is an ectodermal dysplasia with primary involvement of the ectodermal oral and epidermal appendages. It is an autosomal, dominantly inherited condition which has three cardinal signs: ectrodactyly, ectodermal dysplasia, and cleft palate and/or harelip. Skin, hair, teeth, and nails can be affected. In addition to the cardinal symptoms, anomalies in the lacrimal ducts or urogenital anomalies can be part of the syndrome. The differential diagnosis includes other ectodermal dysplasias with cleft palate and with or without harelip such as the Rapp-Hodgkin syndrome and the AEC (ankyloblepharon, ectodermal dysplasia, and cleft palate with or without harelip) syndrome.     

Feto arlequín

‐Introduction: Harlequin fetus is the most severe form of congenital ichthyosis. It is a rare entity that presents with an autosomal recessive pattern of inheritance, and in most cases, its prognosis is fatal during the first year of life. We present a case of harlequin fetus born to consanguineous parents, which died at 18 days. There was no treatment with retinoid drugs, nor was an autopsy performed.     

La dermatología y sus aspectos médico-legales: seguridad clínica y dermatología

Clinical safety and medical liability are first-order concerns in today's medical practice. It is important to understand the circumstances under which medical acts fail to live up to the accepted standard of care and to recognize the impact that malpractice claims have on physicians. Practitioners must also grasp the concept of medical error, studying malpractice claims in order to identify the areas where improvement is needed. The risk of accusations of malpractice in dermatology is comparatively low, both in Spain and worldwide. However, a great variety of clinical scenarios in dermatology can potentially give rise to a claim, and malignant melanoma is most susceptible to risk. Dermatologists should know which actions during clinical consultation merit particular attention and care. Clinical practice carries inherent risk of malpractice claims, but taking certain recommended precautions can prevent them.     

Retículo pigmentado negativo en un nevus melanocítico en crecimiento

A pigmented lesion with focal growth was detected during follow-up of a patient with multiple melanocytic nevi. Dermoscopy examination revealed a slightly blue zone as well as a zone with negative pigment network in the growing area. A possible diagnosis of early melanoma was considered. Histopathology revealed a compound nevus with architectural atypia but without cytologic atypia in the growing area.     

Síndrome de Maffucci

.—The Maffucci's syndrome is mesodermic dysplasia characterized for the coexistence of subcutaneous vascular lesions (fundamentally haemangiomas) and enchondromas. The enchondromas is bony tumours characterized by the cartilage persistence in your metaphysic and epiphysic. This tumour can be cause of the deformity and the reduction of the member due to the expansion of the cartilage inside the bone.The haemangioma are a deep vascular tumours, histological appearance is a spindle-cell haemangioma.On the basis of a 26 year-old woman with multiple vascular lesions (haemangioma) and bony (enchondromas) characteristic of the Maffucci's syndrome, we review the clinical characteristics, histologic, epidemiologic and associated features or the process.     

Síndrome de Gorlin

Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. Of particular importance is the PTCH1 gene. The disease is characterized by the development of multiple basal cell carcinomas at young ages. These tumors may present with other skin manifestations such as palmoplantar pits and with extracutaneous manifestations such as odontogenic keratocysts and medulloblastoma. Although the dermatologist may be key for recognizing clinical suspicion of the syndrome, a multidisciplinary team is usually necessary for diagnosis, treatment, and follow-up. Skin treatment may be complicated due to the large number of basal cell carcinomas and the extent of involvement. In recent years, new drugs that inhibit targets in the sonic hedgehog pathway have been developed. Although these agents appear promising options for patients with Gorlin syndrome, their efficacy is limited by adverse effects and the development of resistance.     

Mucinosis folicular: nuevas entidades clínico-patológicas. Estudio clínico,histológico,inmunohistoquímico e inmunogenotípico de 23 pacientes

A clinical, histopathologic, inmunohistochemical and genotypic analysis review of twenty-three patients with follicular mucinosis (FM) is reported.Patients with primary follicular mucinosis (PFM) and secondary follicular mucinosis (SFM) associated with a systemic or cutaneous T-cell lymphoma were included in the study. Biopsy specimens of FM between the period 1975–2000 were selected based solely on the histopathologic finding of folicular mucin deposition from the dermatopathology files. Inmunostaining with monoclonal antibodies against pan T, pan B, T helper and T8 cells as performed in all biopsies. Detection of clonal T-cell receptor gene rearrangements was performed using a polymerase chain reaction (PCR) amplification of the T-cell ©gene from paraffin-embedded tissue in selected cases.Six cases with SFM (30,4%) were evaluated (all men; mean age: 54,1 y). The most frequent associated lymphoma was mycosis fungoides. Sixteen patients with PFM were evaluated (8 men and 8 women: 8 to 72 years). Four different clinical presentations of PFM could be identified after clinical review: localized PFM, diffuse PFM, acneiforme PFM and urticaria-like PFM.No histopathologic features separated clearly PFM from SFM. Only urticaria-like follicular mucinosis showed specific findigns, consisting in intense inflammatory infiltrate with abundant eosinophils. Inmunohistochemical findings showed predominance of T helper cells in all cases. Three cases of clonal PFM were observed. No differences could be detected between clonal cases and non-clonal cases of PFM. With long follow-up no evolution to cutaneous lymphoma was observed in clonal cases of PFM.Detection of PFM with clonal T-cell populations reinforces and expands the recently proposed concept of clonal benign dermatosis. Continued, long-term surveillance of patients with clonal PFM seems advisable.     

Síndrome de Schnitzler

—The Schnitzler's syndrome is defined by a unique constellation of clinical and biological signs including chronic urticaria, intermittent fever, bone pain, arthralgia or arthritis, and a monoclonal IgM gammopathy.We report a patient with daily bouts of urticariform lesions very resistant to therapy with antihistamines and oral corticosteroids, associated with episodes of fever and bone pain. The patient had leukothrombocytosis, anemia associated to chronic inflammatory processes and an increased erythrocyte sedimentation rate. Serum protein electrophoresis demonstrated a monoclonal IgM component with kappa light chains on immunofixation. Techniques of radiodiagnosis revealed focal bone densification in some vertebrae. The histopatologic study of cutaneous lesions showed features of urticaria without vasculitis.According to these clinical, laboratory and radiological features, the diagnosis of Schnitzler syndrome was established.     

Cirugía de Mohs

—Mohs surgery is a surgical technique that allows the treatment of selected cutaneous tumours with the most elevated cure rates. It also saves the maximun of healthy tissue. This is possible because 100 % of tumoral margins are microscopically analized in each of the examined slices and surgery goes on until no residual tumor is left.This technique has great acceptation in USA, where 30 % of all the basal cell carcinomas are extirpated with Mohs surgery. In Europe, the use of this technique is increasing.We review all the technical aspects, alternative treatments, tumoral approach, technical variants and innovations. We review the old and new indications that appear in the literature.     

Leucoqueratosis nicotínica del paladar

—Leukokeratosis nicotina palati or stomatitis nicotina is a benign disorder of the palatal mucosa. It is more common in males who are important pipe smokers. The smoke of the tobacco causes it, and its prevalence is correlated with the amount of pipe tobacco that is smoked. The clinical features are characteristic, and results in a diffuse hiperkeratosis of the palatal epithelium and inflammation of the salivary glands. The lessions are principally located on the hard palate and consist of multiple white papules, with an ocassional central red depression, giving a cobblestone appearance. The diagnosis is easy, based on the antecedent of pipe smoking and the characteristic clinical features. A biosy is useful to rule out other white oral lessions. There is no risk of malignant transformation. Treatment is to stop consumption of tobacco, after which the lessions tend to regress.We report a case of leukokeratosis nicotina palati, with a severe picture, affecting a male who was an important pipe smoker for more than 45 years; after cessation of tobacco use, the lessions slowly decreased in a 52-month follow-up.