Cutaneous disorders characterized by elastolysis or loss of elastic tissue.

Along with collagen, elastic fibers are integral components of cutaneous connective tissue. A decrease in elastic fibers or loss thereof has been described in a number of clinically distinct skin diseases, both hereditary and acquired. In disorders associated with inflammation, elastophagocytosis is an important histological hallmark. Treatment is generally difficult.

Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence.

With an incidence of 1 in 700 births, Down syndrome (DS) is not an uncommon condition. It is associated with various disorders of different organ systems. Serious disorders include cardiac defects and leukemia. With an onset during the newborn period, the latter does not always progress to classic myeloid leukemia (transient myeloproliferative disorder). Skin manifestations in newborns include pustules/vesiculopustules. In individuals with DS, such lesions should not only prompt suspicion for typical neonatal rashes and infections but also for transient myeloproliferative disorder. However, most dermatoses are benign. They essentially comprise disorders of keratinization that present as xerosis, keratosis pilaris, lichenification, and ichthyosis vulgaris. Also typical but not specific is the four-finger palmar crease (simian crease). Patients frequently develop folliculitides, which - due to elastolysis - subsequently progress to anetoderma. The known immune disturbance in DS patients explains the occurrence of autoimmune diseases such as alopecia areata and vitiligo. Typical skin conditions associated with DS include elastosis perforans serpiginosa, syringomas, milia-like calcinosis cutis, and multiple eruptive dermatofibromas.

Primary anetoderma with undifferentiated connective tissue disease.

Anetoderma is a rare benign elastolytic disorder that is characterized by focal loss of elastin fibers on histopathology and is often recalcitrant to treatment. We present a case of a patient with a 20-year history of pruritic and painful hyperpigmented atrophic papules clustered on the neck, axillae, inframammary folds, and right medial thigh. Although the histopathologyof her axillary lesions was consistent with anetoderma, her clinical presentation is unusual given the extent of involvement, reported pain and pruritus, and sharp demarcation of the distribution. The diagnosticuncertainty of this case led to added difficulty in management of a disease that is already notoriously difficult to treat and may significantly impact patient's quality of life.

Anetoderma before development of antiphospholipid antibodies: delayed development and monitoring of antiphospholipid antibodies in an SLE patient presenting with anetoderma.

INTRODUCTION: Anetoderma is an elastolytic skindisorder that has been associated with the presenceof antiphospholipid antibodies (aPL). Patients withantiphospholipid antibody-positive anetoderma havebeen reported to develop symptoms of Graves disease,antiphospholipid syndrome, and other autoimmuneconditions. The temporal relationship, however,between anetoderma onset and the emergence ofaPL remains unclear, a clarification of which may haveimplications for the screening and monitoring ofpatients with anetoderma. CASE: Herein we report acase of a patient with systemic lupus erythematosuspresenting with anetoderma that preceded thedevelopment of aPL. The patient was found to havesubsequently developed IgM cardiolipin antibodiesat a serology follow-up approximately two years later.Conclusion and Relevance: This finding suggests thatanetoderma can precede aPL seroconversion andthat patients with anetoderma may require continuedserology monitoring. Such long-term monitoring willbe important for identifying laboratory indicationsthat may portend the development of furtherautoimmune symptoms associated with anetoderma.

Anetodermic pilomatricoma: clinical, histopathologic, and sonographic findings.

Pilomatricoma is a benign cutaneous tumor originatingfrom hair matrix cells. Anetodermic changes inthe skin overlying pilomatricomas are sometimesreported, although their precise mechanisms remainunknown. We present an unusual case of anetodermicpilomatricoma on the upper extremity of a 17-yearoldboy and report its clinical, histopathologic, andsonographic findings.

Elastophagocytosis and Elastolysis in Leprosy.

Elastophagocytosis is the engulfment of the elastic fibres by the histiocytes, multinucleated giant cells, or both. The cutaneous lesions showing elastophagocytosis are annular elastolytic giant cell granuloma, actinic keratoses, persistent insect-bite reactions, elastosis perforans serpiginosa, foreign body granuloma. Occasionally, it may occur in infectious diseases like leprosy, granulomatous syphilis, North-American blastomycosis, bacterial folliculitis, and cutaneous leishmaniasis. We report a case of lepromatous leprosy with necrotic erythema nodosum leprosum with secondary anetoderma. Histopathology from the atrophic macule of anetoderma revealed periappendageal, perineural infiltration, elastophagocytosis and reduction in elastic fibres.

Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects.

Terminal osseous dysplasia with pigmentary defects (TODPD) is a rare, X-linked syndrome classically characterized by distal limb anomalies, pigmented skin defects of the face, and recurrent digital fibromas. X-inactivation plays a major role in determining the range of phenotypic expression. Thus, patients can demonstrate a wide spectrum of disease severity, making accurate diagnosis more challenging. Recent studies have identified a FLNA c.5217G>A mutation as the cause of TODPD, allowing for diagnostic genetic testing. We present a case of molecularly confirmed TODPD in a girl with the 47,XXX chromosomal complement and deformities of the hands and feet, craniofacial abnormalities, and discolored, linear facial lesions. Skin biopsy of the patient's facial lesion revealed absent papillary dermal elastic fibers, consistent with anetoderma, which contrasts with the dermal hypoplasia described in the only other such facial biopsy reported in the literature. The finding of absent elastic fibers in the skin lesions suggests that mutated filamin A, in part, exerts its effects through dysregulated elastin biology, which may explain the nature of many connective tissue pleotropic effects in FLNA-related disorders.

[Anetodermic pilomatricoma. Uncommon variant of a common childhood adnexal tumor]. / Anetodermisches Pilomatrikom. Seltene Variante eines häufigen Adnextumors im Kindesalter.

The anetodermic ("bullous") subtype is a rare variant of pilomatricoma which we diagnosed in 2 girls who were 9 and 10 years old. The tumors presented as 3 × 2 and 1.5 × 1.5 cm red dome-shaped nodules with a slightly wrinkled surface on the upper back and on the pretibial region, respectively. Both were superficially soft, but then firm as one palpated deeper. Histology showed an edematous, well-vascularized dermis resembling granulation tissue overlying a deep otherwise typical pilomatricoma. Clinical and histological characteristics of the anetodermic subtype are discussed on the basis of previously published cases.

Anetoderma secondary to antiphospholipid antibodies.

Anetoderma is an elastolytic disorder that is associated with a number of infectious and autoimmune disorders. We present a case of a patient with generalized anetoderma, who was later found to have positive antinuclear antibodies and antiphospholipid antibodies (APAs). Numerous other cases have been reported in literature and some authors have suggested that anetoderma is a highly specific sign of APAs, with or without other manifestations of systemic lupus erythematosus or antiphospholipid syndrome [14]. Thus, work up for connective-tissue disorders should be considered in any patients who present with this skin finding.

A case of xanthoma disseminatum with spontaneous resolution over 10 years: review of the literature on long-term follow-up.

Xanthoma disseminatum (XD) is a rare and potentially progressive non-Langerhans-cell histiocytosis. To date, a few cases of XD with spontaneous complete resolution have been described. The present report describes a 16-year-old girl who presented with yellow to red-brown papules and nodules on her eyelids, cheeks, axillae, back and buttocks. Indirect laryngoscopy showed multiple xanthomatous plaques on the larynx, posterior pharynx, epiglottis, and vocal cords. Additional findings were polyuria, polydipsia, and amenorrhea. Skin biopsy and electron microscopy results confirmed the diagnosis of XD. The patient was treated with fenofibrate, simvastatin, desmopressin, and sex-hormone replacement therapy. Her skin lesions began to slowly fade 6 years after disease onset, eventually resolving spontaneously and completely, but leaving an atrophic scar, frank anetoderma, and persisting diabetes insipidus. This case report together with a review of the English-language literature on the long-term follow-up of XD patients provides additional information on the natural history of this disease.

Familial anetoderma: a report of two families.

Anetoderma is a rare cutaneous disorder where a localized dermal defect of elastic fibers determines depressed areas and often herniated saclike skin. Primary anetoderma is an idiopathic phenomenon while secondary anetoderma is related to various conditions. The term primary anetoderma implies that the lesions occur in clinically normal skin although they may be associated with another dermatological or systemic disease or condition, without a well established relationship. The term secondary anetoderma implies that anetoderma occurred on the same site as another skin lesion. Familial anetoderma is a very rare condition that can be associated with bony, neurological and ocular anomalies. Recently some families with familial anetoderma have been described, where the disease seems to be limited to the skin. The pathogenesis for familial anetoderma is still unclear. It has been reported in only 10 families and in the first 4 reported families, anetoderma was always associated with extra-cutaneous abnormalities, while in the remaining 6 families, all described in last three decades, anetoderma was limited to the skin. We report here another two families with anetoderma without any associated disease and we review the literature on familial anetoderma.

[Anetoderma with positive Borrelia serology]. / Anetodermie bei positiver Borrelienserologie.

Anetoderma is an uncommon disease characterized by multiple circumscribed atrophic, herniated skin lesions on trunk, thighs and upper arms caused by loss of elastic fibers. Associations with autoimmune diseases or infections, especially spirochetal infections, have been described. We report a case of anetoderma with an increased serum Borrelia burgdorferi IgM-titers. After treatment with doxycycline 200 mg/day for three weeks, the progression of the disease stopped and no new lesions appeared.

Papillary dermal elastosis.

There are numerous acquired disorders of elastic tissue that are distinguished by a combination of clinical appearance, location, gender, age of onset, and characteristic histopathologic findings. We present a case of a 36-year-old man with multiple confluent, hypopigmented papules that coalesced into plaques with prominent follicular ostia over the dorsal aspects of the forearms, shoulders, upper chest, and upper back. Histologically there was selective loss of papillary dermal elastic fibers. The clinical and histopathologic findings in this case are consistent with an acquired disorder of elastic tissue which we believe represents the second reported case of papillary dermal elastosis.

Circumscribed lenticular anetoderma in an HIV-infected man with a history of syphilis and lichen planus.

Anetoderma is an uncommon dermatosis that manifests as discrete foci of well-circumscribed, atrophic skin. The condition can be idiopathic or can be secondary to a number of associated cutaneous diseases. Whereas the pathophysiologic mechanisms remain unknown, anetoderma results from diminished elastic fibers in the dermis. We present an unusual case of localized, lenticular anetoderma in a man with HIV, a history of syphilis, and lichen planus. Both of these infections have been associated with anetoderma. Although his lesions are vaguely reminiscent of a variant of syphilitic anetoderma described in the 1930s, they are confined to a smaller anatomic distribution, differ in size, and have a papular appearance. As anetoderma can develop in the context of infectious disease, a diagnosis of anetoderma should trigger a thorough examination and evaluation for treatable concomitant illnesses.

Jadassohn-Pellizzari anetoderma: study of multiphoton microscopy based on two-photon excited fluorescence and second harmonic generation.

Anetoderma is a rare skin disease with loss of dermal elastic tissue resulting in clinically localized areas of flaccid or herniated sack-like skin. In this study, we report a case of Jadassohn-Pellizzari anetoderma, in a 21-year-old Chinese female with an 18-year history of progressively generalized wrinkled skin lesions. Multiphoton microscopy based on two-photon excited fluorescence (TPEF) and second harmonic generation (SHG) was firstly employed to investigate the pathological process from unaffected skin to the erythematous phase and finally with affected skin of this case. The results showed that the normal elastic fibers in unaffected skin were almost completely absent in erythematous skin tissue, then replaced by a lot of elastic fibers with granular morphology in affected skin, which was consistent with the histopathological results. The obvious changes in collagen fibers and the occurrence of inflammatory cell infiltration in erythematous tissue suggested that the variations of these two components were also the main pathogenesis of anetoderma, except for the deficiency of elastic fibers. Based on these data, we demonstrated that multiphoton microscopy was a promising tool for non-invasive investigation of the pathology of anetoderma at nearly histological resolution, and has potential for observing the dermatological dynamic processes for living specimens because it is based on the intrinsic signals of tissue components.

Japanese familial anetoderma: A report of two cases and review of the published work.

Anetoderma is a rare cutaneous disorder characterized by focal loss of dermal elastic tissue, resulting in macular atrophy or herniated saclike skin. Some families with hereditary anetoderma have been described, but there have been no reports on Japanese familial anetoderma so far. We herein report two Japanese sibling cases of primary anetoderma. A healthy 13-year-old Japanese girl and a healthy 15-year-old Japanese girl presented to our hospital with a 6-month history of small atrophic pittings on their arms and trunks. All lesions were less than 0.5 cm in diameter, which are relatively small for non-familial anetoderma. Preceding infections or skin lesions were not observed. A skin biopsy revealed a focal, complete loss of elastic tissue in the superficial to mid-dermis which was surrounded by fine, irregular or twisted elastic fibers. Based on these findings, the diagnosis of anetoderma was made. Review of published works demonstrated that the mode of inheritance of familial anetoderma is not simple, suggesting that it is important to survey any family member of the patients with anetoderma.

Anetoderma due to secondary syphilis: Report of two cases and discussion of the histopathological findings.

Anetoderma is a rare benign condition of diverse etiology whose characteristic is the diminution or absence of the dermal elastic fibers. Classified as primary and secondary, the latter associated with tumors, inflammatory, and infectious diseases. Although the etiology of the lesions is well described in literature, the pathogenesis is still poorly determined. Anetoderma in syphilis is rare, and occurs even in the most uncommon cutaneous manifestations of the disease, such as the nodular form. In order to better understand the changes that lead to elastolysis, we propose a better correlation with the histopathological findings of the lesions that precede it. We present two cases of anetoderma secondary to syphilis, whose clinical aspects resembled the pattern of their initial secondary syphilis rash.