Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

BACKGROUND: Tyrosinemia type II, also known as Richner-Hanhart Syndrome, is an extremely rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic cytosolic tyrosine aminotransferase, leading to the accumulation of tyrosine and its metabolites which cause ocular and skin lesions, that may be accompanied by neurological manifestations, mostly intellectual disability. AIMS: To update disease-causing mutations and current clinical knowledge of the disease. MATERIALS AND METHODS: Genetic and clinical information were obtained from a collection of both unreported and previously reported cases. RESULTS: We report 106 families, represented by 143 individuals, carrying a total of 36 genetic variants, 11 of them not previously known to be associated with the disease. Variants include 3 large deletions, 21 non-synonymous and 5 nonsense amino-acid changes, 5 frameshifts and 2 splice variants. We also report 5 patients from Gran Canaria, representing the largest known group of unrelated families sharing the same P406L mutation. CONCLUSIONS: Data analysis did not reveal a genotype-phenotype correlation, but stressed the need of early diagnosis: All patients improved the oculocutaneous lesions after dietary treatment but neurological symptoms prevailed. The discovery of founder mutations in isolated populations, and the benefits of early intervention, should increase diagnostic awareness in newborns.

Follicular Unit Extraction for Hair Transplantation: An Update. / Actualización del método Follicular Unit Extraction (FUE) del trasplante de pelo.

Follicular unit extraction (FUE) is a hair transplantation technique that uses small punches (0.8-1 mm in diameter) to extract the follicular units (FUs). Though initially the technique was not widely accepted because of the difficulty of extracting intact follicular units with such small punches, it has since gained in popularity due mainly to rising patient demand, the availability of better instrumentation and greater surgical skill acquired from experience. It is now a recognised alternative to follicular unit transplantation (FUT), a technique based on harvesting the FUs from a strip of tissue. Among the advantages of FUE are less post-procedural discomfort in the donor zone and the barely visible scarring from the punches. However, FUE is a more laborious, time-consuming procedure that involves a long learning curve for the surgeon.

Hair-follicle Transplant Into Chronic Ulcers: A New Graft Concept. / Trasplante de folículos pilosos en úlceras crónicas: un nuevo concepto de injerto.

Chronic venous leg ulcers are a major therapeutic challenge in clinical practice, and the search for new approaches to improve wound healing is essential. Many ulcers do not heal with traditional treatment using compression, debridement, and dressings. Skin-grafts variants, such as pinch grafts, punch grafts, split- or full-thickness skin grafts, and grafts derived from cells cultured in the laboratory, are among the most widely used options in ulcers that do not heal. In recent years, numerous studies have brought to our attention the important role of the hair follicle in the healing process of cutaneous wounds. Putting knowledge into practice, hair follicles from the scalp have been used in punch-type grafts transplanted to the base of chronic ulcers to stimulate healing. Results appear to be better than those with traditional hairless punch grafts, opening new lines of treatment for recalcitrant chronic venous ulcers.

[Follicular unit hair transplantation: current technique]. / Técnica actual del trasplante de pelo de unidades foliculares.

UNLABELLED: Since 1959, when Norman Orentreich described the phenomenon of donor dominance in androgenic alopecia and opened the way to hair transplantation, the field of hair replacement surgery has been evolving continuously. Advances in the last 15 years, particularly the microscopic dissection of donor strips into follicular units, have eradicated the idea that follicular transplantation is an aggressive procedure that produces an artificial result. Hair transplantation procedures involving the transplant of only follicular units can now achieve natural, undetectable, and reproducible RESULTS: , very different from the outcomes achieved with earlier techniques. Consequently, there is no excuse today for not offering hair transplantation to patients with androgenic alopecia, both male and female, who are good candidates for this technique. This review provides a general overview of the current procedure for follicular unit hair transplantation.

Lipase expression in human skin.

We have used a monoclonal antibody against human pancreatic lipase to study the immunohistochemical expression of lipase in formalin-fixed, paraffin-embedded biopsy specimens from normal and a variety of tumoral and inflammatory skin diseases. In normal skin, lipase is detected in the sebaceous glands and in the external root sheath of the hair follicle. Antibody to lipase might be a valuable reagent to help confirm sebaceous and follicular differentiation in adnexal tumors. Immunoreactivity to lipase is also detected within mononuclear phagocytes in situations where extracellular release of lipids occurs, such as in xanthomas or in inflammation of the fat with significant lysis of adipocytes. The antibody to lipase identifies a major protein in pilosebaceous homogenates of 42.7 kDa following immunoblotting.

[Familial acanthosis nigricans]. / Acantosis nigricans familiar.

After a brief introduction about the classification and clinicopathological findings of acanthosis nigricans, we present a clinical case of the familial type of acanthosis nigricans in a woman with lesions beginning in childhood and with three family members affected. We comment the characteristics that permit us to individualize this condition from the other forms of benign acanthosis nigricans.

[Systemic mastocytosis]. / Mastocitosis sistémica.

We report a case of systemic mastocytosis in a 21-year-old male with skin, liver and bone marrow involvement. During the clinical course he developed important gastrointestinal manifestations including a peptic ulcer probably caused by mast cell mediators. In this article we also review the most remarkable characteristics of mastocytosis, especially their systemic forms.

[Progressive symmetric erythrokeratodermia. Report of a case with delayed onset treated by etretinate]. / Eritroqueratodermia simétrica y progresiva. Aportación de un caso de inicio tardío tratado con etretinato.

A case of delayed onset (17 years) progressive symmetric erythrokeratodermia is presented. The treatment with etretinate initially improved the clinical picture, but it had to be discontinued because of personality changes, particularly depressive crisis. In addition, clinical manifestations, histology, kinetics and ultrastructural changes in this condition are also commented on.

QBEND/10 (anti-CD34 antibody) in external root sheath cells and follicular tumors.

The human hematopoietic progenitor cell antigen (CD34) is a cell surface protein expressed by human hematopoietic progenitor cells, vascular endothelium, and many mesenchymal tumors. Sections from six samples of normal skin and from 41 epithelial tumors of the skin were studied. Immunostaining of epithelial cells from the external root sheath below the attachment of the arrector pili muscle and above the matrix cells was noted in normal samples. Tumors derived from or differentiated toward cells of the outer sheath, especially trichilemmomas, were immunostained with QBEND/10 (anti-CD34 antibody), whereas other epithelial tumors studied were negative. CD34 could serve as a marker of outer sheath cell derivation and may well be of value in the distinction between trichilemmomas and other lesions with similar histopathological features.

Pruritic papular eruption of the acquired immunodeficiency syndrome: a clinicopathologic study.

The pruritic papular eruption of the acquired immunodeficiency syndrome is characterized by generalized, pruritic, skin-colored papules and nodules. Chronic lesions are excoriated and hyperpigmented. The eruption and pruritus typically wax and wane and are resistant to oral antihistamine and topical steroid therapy. The characteristic histologic features are (1) superficial and mid dermal perivascular and perifollicular mononuclear cell infiltrate with numerous eosinophils and (2) follicular damage of varying degrees. When compared with control subjects, these patients did not demonstrate any significant difference in laboratory or demographic data.

Keratoderma palmoplantaris striata.

A patient with keratoderma palmoplantaris striata is presented. In the family tree there are 36 relatives affected to a varying degree. The familial incidence is the largest reported in the literature reviewed. The response to etretinate was excellent, controlling the lesions with minimal side-effects.

Linear unilateral basaloid follicular hamartoma.

A 36-year-old woman with a linear and unilateral cutaneous hamartoma is described. The lesions consisted of hypopigmented macules that coalesced into a linear plaque that involved only the left side of her body. Within this plaque were several pearly papules and an ulcerated area that clinically resembled basal cell carcinomas. Histologic features of the hypopigmented linear plaque included multiple and multifocal basaloid proliferations in the papillary and mid dermis. The isolated pearly papules showed the typical findings of basal cell carcinoma.

Subcutaneous fat necrosis associated with pancreatitis: histochemical and electron microscopic findings.

Subcutaneous fat necrosis associated with pancreatitis has been postulated to be due to the effects of circulating pancreatic lipase. We report positive intracellular staining of adipocytes with a monoclonal antibody to pancreatic lipase in a lesion of subcutaneous pancreatic fat necrosis, and confirm the role of pancreatic lipase in the pathogenesis of this syndrome.

Porphyria cutanea tarda and human immunodeficiency virus infection.

Porphyria cutanea tarda (PCT), a relatively uncommon disease, has recently been reported in patients infected with the human immunodeficiency virus (HIV). Although PCT and HIV infection may co-exist by chance, the increasing number of reported cases suggest that HIV or an associated factor triggers the development of PCT in predisposed individuals. We report four additional cases of PCT in HIV seropositive patients and review the previously reported cases. The possible links between PCT and HIV are discussed. We believe the diagnosis of PCT should prompt investigation for HIV infection in all patients.