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PASS syndrome is a rare inflammatory disease characterized by a chronic-relapsing course of pyoderma gangrenosum, acne vulgaris, hidradenitis suppurativa and ankylosing spondylitis. Here, we describe a case of a patient with spontaneously recurrent purulent skin lesions along with seronegative spondylarthritis consistent with the PASS syndrome. During his disease exacerbation, the patient displayed episodes of fever along with elevated serum levels of interleukin (IL)-1β. Skin lesions were characterized by sterile neutrophilic infiltrates and showed a rapid response to the IL-1 receptor antagonist anakinra (Kineret®) consistent with the autoinflammatory nature of this disease. However, unlike other autoinflammatory diseases such as PAPA and PAPASH, we did not find mutations in the gene PSTPIP1, raising the possibility that other specific mutations in the IL-1 pathway may be involved., (© 2016 S. Karger AG, Basel.)

Large or giant cellular blue nevi are usually congenital and represent a challenge for the physician. Close anatomic structures may be altered by the size of the moles. In this article, we report the case of an uncommon large, agminated, cellular blue nevus of the 'plaque type' in a 42-year-old female. Due to the risks of malignant melanoma development on a large or giant blue nevus, we highlight the importance of proper histopathological diagnosis. Furthermore, because of the possibility that the nevus may invade the bone and cerebral tissues, we discuss the indication of a radiological diagnosis. The accurate correlation to clinical and histopathological findings and appropriate multidisciplinary management can save the lives of patients.

Background: Mal de Meleda (keratoderma palmoplantaris transgrediens) is an autosomal recessive disorder, first described on the island of Mljet (Meleda), Croatia. The candidate region for the gene responsible for this disorder was found on the chromosome 8qter, and the responsible mutations have recently been identified in 12 Algerian and 7 Croatian families., Objectives: To fully characterize all 12 living cases originating from the original setting of the disease, the island of Mljet, in the light of new findings and using modern diagnostic technology., Patients and Methods: Twelve patients and 37 family members were identified over the period 1998-1999, interviewed and examined., Results: The reconstruction of 8 genealogies suggests a common ancestry of all cases but one. The clinical presentation and pathologic findings of these cases are described in detail and are consistent with previous reports. Symptoms and signs were found to be milder in non-manual workers who had applied continuous symptomatic treatment. Blood samples were taken from 8 cases and 16 close relatives for genetic studies. These confirmed a shared haplotype in all cases, but in none of 17 unaffected control individuals, near the marker D8S1751 on chromosome 8., Conclusions: This review characterizes mal de Meleda in its original setting and shows that the sporadic cases found in the regions of medieval trade routes of the Republic of Dubrovnik (Middle East and Northern Africa) carry the same mutation as the patients from Mljet Island, Croatia., (Copyright 2002 S. Karger AG, Basel)

Bullosis diabeticorum (BD), although a rare manifestation, is characteristic of diabetes mellitus. The exact origin of BD is unknown. We report another case of a 54-year-old man who developed a blistering lesion on his left leg. Histopathological examination revealed a microangiopathy with hyalinosis of the blood vessel walls., (Copyright 2000 S. Karger AG, Basel)

A family with affected members, previously reported to carry an R94H mutation of keratin K17, and characterized by a variable and oligosymptomatic form of pachyonychia congenita of the Jackson-Sertoli type with steatocystoma multiplex, is described in detail.

We report 2 cases of clinically typical Meleda disease in a family from Herzegovina. Electron microscopy did not reveal major ultrastructural anomalies of keratinization; however, the transition from stratum granulosum to stratum corneum appeared to occur less abruptly than normally by a stepwise process suggesting a slowing down of terminal cornification.

We report the case of a 62-year-old patient with an extracutaneous CD30+ anaplastic large T-cell lymphoma which was preceded by intraepidermal IgA pustulosis (IEAP). The clinical picture was identical to Sneddon-Wilkinson disease and histologic examination showed subcorneal pustules with slight acantholysis. Direct immunofluorescence exclusively revealed IgAK deposits on the plasma membrane of suprabasal keratinocytes. Indirect immunofluorescence and immunoelectrophoresis showed no evidence of monoclonal IgA gammopathy. IEAP responded to dapsone treatment (100 mg/day). Two months after disappearance of active cutaneous lesions, the patient developed generalized lymphadenopathy due to CD30+ anaplastic T-cell lymphoma.

Background: Retinoic acid (RA) cream treatment alters epidermal proliferation and differentiation in photoaged skin., Objective: To study the changes in the expression of markers of epidermal differentiation in photoaged skin following RA cream treatment., Methods: Ten subjects with photoaged skin were examined before treatment and at regular intervals during 12 months of once daily application of 0.05% tretinoin cream over the left forearm. Paraffin-embedded biopsy sections from the forearm were stained with loricrin, filaggrin, involucrin and cornifin antisera in addition to hematoxylin and eosin. The various layers were measured using a calibrated optical micrometer., Results: The thickness of the epidermis increased rapidly, reaching a substantial increase after 1 month of retinoid cream application and retaining it during the following 12 months. The stratum granulosum achieved a transient but substantial increase after 1 and 3 months. Except involucrin, the ratio between the layers expressing the various markers of epidermal differentiation and the epidermis significantly increased following tretinoin cream treatment., Conclusion: RA cream treatment not only increases the thickness of the epidermis but also the programming of late terminal epidermal differentiation, as expressed by the markers studied. Thus, RA appears to affect both proliferation and differentiation of keratinocytes in vivo.

The case of a 62-year-old woman with end-stage renal failure who developed necrotizing vascular calcinosis is reported. Histologically, classical vascular calcinosis of arterioles with fibrosis of the intima were found in the subcutis and in the deep dermis.

A 20-year-old black patient with bullous systemic lupus erythematosus developed papular and vesicular lesions on the extensor surfaces of the extremities. Histologically, subepidermal blisters and papillary neutrophilic abscesses with a striking number of lupus erythematosus cells were observed. No circulating anti-basal-membrane-zone antibodies were found. By Western immunoblotting, the patient's serum showed no reactivity against epidermal or dermal extracts.

Light- and electron-microscopical examination of 4 skin biopsies from 2 members of the initially described family with Nägeli-Franceschetti-Jadassohn syndrome revealed that the already reported pigment incontinence is accompanied by varying amounts of colloid-amyloid bodies located in the superficial dermis. Occasionally, such bodies could also be seen around sweat glands in the reticular dermis. These findings indicate that cutaneous colloid-amyloid formation could be a pathogenic factor in the phenotypic expression of this autosomal dominant syndrome.

We prospectively analyzed skeletal changes of 16 patients who were treated with acitretin for various disorders of keratinization at doses of 10-50 mg/day (overall mean 0.4 mg/kg/day) for 7-12 months (mean 11.4 months). Skeletal changes from pretherapy findings were observed in 5 patients. In 4 of 5 patients they appeared to be linked to a preexisting degenerative pathology and could not be attributed to acitretin therapy. However, in 1 patient a spinal osseous side effect could not be excluded. No retinoid-induced extraspinal tendon or ligament calcifications were observed.

A 32-year-old Turkish man with a progressive appearance of indolent, skin-colored nodules on the trunk and proximal extremities is presented. Clinical and laboratory examinations did not reveal any other relevant abnormalities. Histological specimens showed focal, ill-defined depositions of acid mucopolysaccharides mainly in the reticular dermis. Collagen fibers were split up and separated. Ultrastructurally, activated fibroblasts and an increased synthesis of collagen fibrils and elastic microfibrils as well as numerous macrophages were noticed. Diagnostically, an unusual multiple type of cutaneous focal mucinosis is most likely.

The cornified cell envelope (CE) is a highly insoluble structure on the inside of the plasma membrane of terminally differentiated keratinocytes. The cellular and molecular biology of the CE is outlined and new areas of research involving the CE are reviewed focussing on morphological and biochemical connections, the sequential gene expression during terminal differentiation, the interaction of lipids and proteins forming the epidermal barrier, the cysteine-rich pool of proteins in the epidermis as well as the molecular cloning and/or characterization of major components of the CE.