Differentiation of inflammatory papulosquamous skin diseases based on skin biophysical and ultrasonographic properties: A decision tree model.

BACKGROUND: The biophysical and ultrasonographic properties of the skin change in papulosquamous diseases. AIMS: : To identify biophysical and ultrasonographic properties for the differentiation of five main groups of papulosquamous skin diseases. METHODS: Fifteen biophysical and ultrasonographic parameters were measured by multiprobe adapter system and high-frequency ultrasonography in active lesions and normal control skin in patients with chronic eczema, psoriasis, lichen planus, pityriasis rosea and parapsoriasis/mycosis fungoides. Using histological diagnosis as a gold standard, a decision tree analysis was performed based on the mean percentage changes of these parameters [(lesion-control/control) ×100] for differentiation of the diseases. RESULTS: The accuracy of the decision tree model for differentiation of five diseases was 67% which developed based on changes in stratum corneum hydration, epidermal thickness, skin pH, melanin index, R0 (reciprocal of firmness) and erythema. Among the flowcharts for pairs of diseases, three models for differentiation had high accuracy (> 95%): those of psoriasis from lichen planus, pityriasis rosea, and parapsoriasis/mycosis fungoides. LIMITATIONS: Validation studies on a larger sample size in situations where the diagnosis is unclear are needed to confirm the accuracy and applicability of decision trees. CONCLUSION: Skin biophysical and ultrasonographic properties may help in the differentiation of papulosquamous diseases as simple and non-invasive tools.

Self-healing juvenile cutaneous mucinosis: Clinical and histopathologic findings of 9 patients: The relevance of long-term follow-up.

BACKGROUND: Self-healing juvenile cutaneous mucinosis (SHJCM) is a rare disorder, and its pathogenesis and long-term prognosis are unknown. OBJECTIVE: To elucidate the clinical and histopathologic characteristics, pathogenesis, and outcome in patients with SHJCM. METHODS: Retrospective study of 9 patients with SHCJM. To complement initial findings, data collection forms were sent to the referring physicians. RESULTS: All patients had an acute onset of firm nodules. Of the 9 patients, 6 presented initially with waxy papules on the dorsum of the hands; 5 suffered from periorbital edema, and 6 had a febrile prodrome. Histopathologic assessment of the papules revealed dermal mucin deposition, whereas the nodules showed proliferative fasciitis-like features or nonspecific chronic lobular panniculitis. Laboratory studies elicited evidence of active viral infection in 2 patients (human herpes virus 6 and rotavirus). Seven cases had spontaneous resolution within 6 months, and 2 patients with incomplete resolution showed subsequent transition to fibroblastic rheumatism and an autoinflammatory rheumatologic disease, respectively. LIMITATIONS: This was a retrospective study with incomplete data from referring physicians. CONCLUSIONS: Although spontaneous complete regression is expected, patients with SHJCM need long-term follow-up because of the possible development of dematorheumatolgic conditions. The pathogenetic role of microbial agents deserves further investigation.

Plasmacytoid Dendritic Cells and Type I Interferon Signature in Lichen Striatus.

BACKGROUND/OBJECTIVES: In addition to several infectious and neoplastic cutaneous entities, plasmacytoid dendritic cells (pDCs) have been shown to be involved in the pathogenesis of multiple cutaneous inflammatory and autoimmune disorders, including those characterized histologically by an "interface dermatitis" pattern such as lupus or lichen planus (LP), but their role in lichen striatus (LS), which is also known to have this histologic inflammatory pattern, has never been studied. The objective of the study was to investigate the role of pDCs in LS. METHODS: Fifteen LS patients were found in our database and were immunohistochemically tested for pDC occurrence and activity using anti-blood-derived dendritic cell antigen-2 and anti-myxovirus resistance protein A (MxA) antibodies, respectively. These individuals were also compared with 15 individuals with LP. RESULTS: pDCs were present in all individuals with LS and LP, but they were less abundant in those with LS, although MxA (surrogate marker of local type I interferon production and thus an indirect assessment of pDC activity) was similarly intense and diffuse in all individuals with LS and LP. In addition to being part of the upper dermal inflammatory bandlike infiltrate as in LP, LS cases, unlike LP, also showed perieccrine pDCs. CONCLUSIONS: pDCs constitute a central component of the inflammatory infiltrate in LS, suggesting a significant role in its pathogenesis. pDC distribution (perieccrine distribution) could also help in microscopically differentiating LS from LP.

Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.

Reticulate acropigmentation of Kitamura (RAK) is a rare genetic disorder of cutaneous pigmentation with an autosomal dominant pattern of inheritance and a high penetration rate. The characteristic skin lesions are reticulate, slightly depressed pigmented macules mainly affecting the dorsa of the hands and feet, which first appear before puberty and subsequently expand to the proximal limb and the trunk. To identify mutations that cause RAK, we performed exome sequencing of four family members in a pedigree with RAK. Fifty-three SNV/Indels were considered as candidate mutations after some condition narrowing. We confirmed the mutation status in each candidate gene of four other members in the same pedigree to find the gene that matched the mutation status and phenotype of each member. A mutation in ADAM10 encoding a zinc metalloprotease, a disintegrin and metalloprotease domain-containing protein 10 (ADAM10), was identified in the RAK family. ADAM10 is known to be involved in the ectodomain shedding of various substrates in the skin. Sanger sequencing of four additional unrelated RAK patients revealed four additional ADAM10 mutations. We identified a total of three truncating mutations, a splice site mutation and a missense mutation in ADAM10. We searched for mutations in the KRT5 gene, a causative gene for the similar pigmentation disorder Dowling-Degos disease (DDD), in all the patients and found no KRT5 mutation. These results reveal that mutations in ADAM10 are a cause of RAK and that RAK is an independent clinical entity distinct from DDD.

Enfoque terapéutico de la psoriasis en la infancia / Therapeutic approach to psoriasis in children

La psoriasis infantil es una enfermedad multifactorial, con múltiples aristas. Las lesiones características son placas eritematoescamosas bien definidas, localizadas en codos, rodillas, región sacra y cuero cabelludo; pueden afectar todo el tegumento, incluyendo palmas, plantas, semimucosas, uñas y articulaciones. La predisposición genética queda demostrada por la clara agregación familiar (uno de cada tres pacientes tiene un familiar afectado), la concordancia en gemelos y la asociación con determinados HLA. Se trata de una enfermedad de difícil tratamiento, sobre todo en los casos graves y formas diseminadas y, en especial, en los niños. Las terapéuticas a utilizar deben ser minuciosamente evaluadas y consensuadas con la familia. En numerosas ocasiones se utilizan tratamientos combinados, de rotación o de ambos tipos. El objetivo del tratamiento debe ser suprimir las manifestaciones clínicas, inducir remisiones prolongadas, procurar efectividad con alto perfil de seguridad y posibilitar una mejor calidad de vida

Disorders of cell kinetics and differentiation.

The kinetics of cells, keratin, and lipids in the skin could provide useful information about skin biology in health and disease. The kinetics of skin cell turnover are of interest for a variety of physiologic and pathologic conditions. There are also uncertainties regarding the extent of keratinocyte turnover in various skin diseases. Hyperproliferation may represent a risk factor for skin cancer and occurs in physiologic conditions such as wound healing.

Histopathology of Gottron's papules--utility in diagnosing dermatomyositis.

Dermatomyositis (DM) is an uncommon connective tissue disease that presents with a characteristic violaceous skin eruption as well as proximal muscle weakness, primarily of the upper extremities. Cutaneous stigmata of DM include Gottron's papules, similarly colored papules and plaques overlying the extensor surfaces of finger joints. While biopsy of the typical poikilodermatous skin eruption found in patients with suspected DM is a standard algorithmic component in the workup and diagnosis of the disease, Gottron's papules are rarely sampled for histopathologic assessment. The precise reason for this is not known but may be related to problems associated with healing because of constant motion forces in the vicinity of the joint. Given this, sparse literature is available on the histopathologic features of Gottron's papules. In this study, we present two cases in which the presence of papular (Gottron's papules) lesions on the fingers led to a presumptive diagnosis of DM and prompted biopsies of the same. The study illustrates the diagnostic utility of biopsies from Gottron's papules.

Less well-defined dermatoses of pregnancy.

Over the past several decades, many specific and nonspecific dermatoses of pregnancy have been described. The lack of a well-defined clinical and histological features as well as reproducibility in some of these entities has led to confusing reports in the literature. In this review article, an account of these nonspecific dermatoses of pregnancy will be presented in an attempt to shed light on their nosology and to better categorize them in view of the recent literature findings.

Painful penile ulceration in a patient with malignant atrophic papulosis.

Malignant atrophic papulosis (MAP) is a rare, obliterating vasculopathy affecting multiple systems, frequently with a poor prognosis. Although cutaneous lesions are often the initial presentation, systemic involvement is also common, usually with a fatal outcome. Involvement of the genitalia is very rare. We describe a 45-year-old male patient with multisytemic manifestation of MAP accompanied by painful penile ulceration. The pathogenesis of MAP is not yet fully understood and effective treatment choices are limited. In our case, the combination of pentoxifylline and dipyridamole failed to provide a beneficial effect on the progression of the disease and the patient died due to intestinal and intrathoracic manifestation of MAP. In the present case, attention should be drawn to the following clinical course and therapeutic properties: (i) we describe the second patient in the literature diagnosed with MAP and painful penile ulceration; (ii) to our knowledge, this is the first reported case with oesophageal fistula due to MAP; (iii) we could not confirm the efficacy of pentoxifylline, the recently reported treatment modality, in our patient.

Acute generalized exanthematic pustulosis: a case with a lymphoma-like presentation.

A 28-year-old woman developed an acute generalized exanthematic pustulosis in association with a massive lymphadenopathy. A viral etiology seemed highly probable although a drug reaction could not be excluded.

Bindii dermatitis.

Bindii dermatitis is a distinctive eruption involving the palms, soles, elbows and knees. Most patients are young boys engaged in vigorous outdoor activities. The eruption represents a reaction to traumatic impregnation of the skin with the spine of the bindii seed. It can easily be misdiagnosed by dermatologists unfamiliar with the condition.

Acute generalized exanthematous pustulosis.

Acute generalized exanthematous pustulosis (AGEP) is now a well-known clinical entity, characterized by acute onset with associated fever, and numerous non-follicular pin-head sterile pustules on erythematous background. The biopsy evidences subcorneal pustules resembling those of pustular psoriasis. However, polymorphic aspects such as pseudo-erythema multiforme purpuric lesions, and edema are often associated, and with the rapid self-healing course of this impressive pustulosis, allow the differential diagnosis with pustular psoriasis. Most cases of AGEP are drug induced, particularly by antibiotics and mainly beta-lactams. However, a number of other drugs, of which the list is increasing, may be responsible. Few cases are related to other causative factors such as viral infections or ultraviolet radiation.

Acquired Blaschko dermatitis: acquired relapsing self-healing Blaschko dermatitis.

Acquired Blaschko dermatitis is a rare disease with acquired unilateral relapsing inflammatory linear lesions along Blaschko's lines. Histopathology reveals spongiotic dermatitis. "Blaschkite de l'adulte" and "acquired relapsing self-healing Blaschko dermatitis" have been suggested as names for this condition. Our patient was a 27-year-old man with a 6 month history of repeated, unilateral, slightly pruritic, discrete and grouped erythematous papules and papulovesicles on the left side of the upper limbs and trunk along Blaschko's lines. Histologic examination showed subacute spongiotic dermatitis. The condition showed excellent improvement after treatment with systemic corticosteroid for 2 months. Only a few cases have been reported. We propose a new designation and describe a patient who represents the first reported case of acquired Blaschko dermatitis in Korea.

Fibroelastolytic patterns of intrinsic skin aging: pseudoxanthoma-elasticum-like papillary dermal elastolysis and white fibrous papulosis of the neck.

BACKGROUND: Cutaneous aging is due to intrinsic and extrinsic factors. While the pathologic hallmark of extrinsic aging (photoaging) is solar elastosis, intrinsic aging lacks any specific feature. Only a progressive thinning and loss of the dermal elastic network occasionally associated with focal thickening of the collagen bundles may be observed. In contrast to the different clinical patterns of solar elastosis, only one distinctive disorder has been related so far to intrinsic aging: the temporary wrinkles. OBJECTIVE: Pseudoxanthoma-elasticum-like papillary dermal elastolysis (PDE) and white fibrous papulosis of the neck (WFP) are further clincopathologic patterns of intrinsic aging. MATERIAL AND METHODS: Review of the literature and clinical and histologic studies of patients of our files. RESULTS: PDE and WFP share some peculiar clinical and histologic features, namely their occurrence in late adulthood and thinning or loss of the elastic fibers, mainly in the papillary dermis. Moreover, elastolysis in PDE and focal fibrosis in WFP, along with the abnormal elastic fibers, immature elastogenesis and activation of fibroblasts observed in PDE, are quite similar to the changes described in intrinsic aging. CONCLUSIONS: PDE and WFP along with temporary wrinkles and some cases of noninflammatory middermal elastolysis could be classified as 'age-related fibroelastolytic syndromes'.

Acquired relapsing self-healing Blaschko dermatitis.

We describe a 44-year-old woman who had a unilateral relapsing linear dermatosis for 12 years. The lesions consisted of erythematous, discrete and grouped papules and papulovesicles that were localized to the left side of the upper and lower limbs, chest, abdomen, and back. They were distributed along Blaschko's lines. There was also a diffuse erythematous scaly hyperkeratosis of both palms. The lesions healed spontaneously. Examination of biopsy specimens from the back and the left palm revealed acute and subacute spongiotic dermatitis, respectively. This dermatosis was first described by Grosshans and Marot in 1990 and termed "Blaschkite de l'adulte." Because the disease is acquired, relapsing, heals spontaneously, follows Blaschko's lines, and is characterized histopathologically by a spongiotic dermatitis, we propose the term "acquired relapsing self-healing Blaschko dermatitis."