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cutaneous amyloidosis

Zaria Ali, Bertie Fernando
Amyloidosis of the eyelid is uncommon and is typically associated with systemic associations. In contrast, amyloidosis of the conjunctiva is often localised with no other associations. We present a rare case of a 92-year-old gentleman with both cutaneous lid lesions and conjunctival amyloid with no systemic involvement. Biopsy demonstrated the hallmarks of amyloid and treatment has remained conservative. He remains at the department to be monitored for secondary glaucoma.
2016: Case Reports in Ophthalmological Medicine
James Raymond, James Choi
No abstract text is available yet for this article.
September 2016: JAAD Case Reports
P Dickison, V Howard, B Wylie, S D Smith
Systemic AL amyloidosis is known to be associated with plasma cell dyscrasias, including multiple myeloma. The cutaneous manifestations of systemic AL amyloidosis are varied, but typically include waxy plaques or subcutaneous nodules. We report a woman who presented with bilateral eruptions of hyperpigmented plaques in her axillae, which were diagnosed as milia en plaque. She had a history of multiple myeloma, for which she was under the care of a haematologist. This is the first documented case, to our knowledge, of an eruption in the axillae being milia en plaque...
October 2016: Clinical and Experimental Dermatology
Enzo Errichetti, Giuseppe Stinco
Over the last few years, dermoscopy has been shown to be a useful tool in assisting the noninvasive diagnosis of various general dermatological disorders. In this article, we sought to provide an up-to-date practical overview on the use of dermoscopy in general dermatology by analysing the dermoscopic differential diagnosis of relatively common dermatological disorders grouped according to their clinical presentation, i.e. dermatoses presenting with erythematous-desquamative patches/plaques (plaque psoriasis, eczematous dermatitis, pityriasis rosea, mycosis fungoides and subacute cutaneous lupus erythematosus), papulosquamous/papulokeratotic dermatoses (lichen planus, pityriasis rosea, papulosquamous sarcoidosis, guttate psoriasis, pityriasis lichenoides chronica, classical pityriasis rubra pilaris, porokeratosis, lymphomatoid papulosis, papulosquamous chronic GVHD, parakeratosis variegata, Grover disease, Darier disease and BRAF-inhibitor-induced acantholytic dyskeratosis), facial inflammatory skin diseases (rosacea, seborrheic dermatitis, discoid lupus erythematosus, sarcoidosis, cutaneous leishmaniasis, lupus vulgaris, granuloma faciale and demodicidosis), acquired keratodermas (chronic hand eczema, palmar psoriasis, keratoderma due to mycosis fungoides, keratoderma resulting from pityriasis rubra pilaris, tinea manuum, palmar lichen planus and aquagenic palmar keratoderma), sclero-atrophic dermatoses (necrobiosis lipoidica, morphea and cutaneous lichen sclerosus), hypopigmented macular diseases (extragenital guttate lichen sclerosus, achromic pityriasis versicolor, guttate vitiligo, idiopathic guttate hypomelanosis, progressive macular hypomelanosis and postinflammatory hypopigmentations), hyperpigmented maculopapular diseases (pityriasis versicolor, lichen planus pigmentosus, Gougerot-Carteaud syndrome, Dowling-Degos disease, erythema ab igne, macular amyloidosis, lichen amyloidosus, friction melanosis, terra firma-forme dermatosis, urticaria pigmentosa and telangiectasia macularis eruptiva perstans), itchy papulonodular dermatoses (hypertrophic lichen planus, prurigo nodularis, nodular scabies and acquired perforating dermatosis), erythrodermas (due to psoriasis, atopic dermatitis, mycosis fungoides, pityriasis rubra pilaris and scabies), noninfectious balanitis (Zoon's plasma cell balanitis, psoriatic balanitis, seborrheic dermatitis and non-specific balanitis) and erythroplasia of Queyrat, inflammatory cicatricial alopecias (scalp discoid lupus erythematosus, lichen planopilaris, frontal fibrosing alopecia and folliculitis decalvans), nonscarring alopecias (alopecia areata, trichotillomania, androgenetic alopecia and telogen effluvium) and scaling disorders of the scalp (tinea capitis, scalp psoriasis, seborrheic dermatitis and pityriasis amiantacea)...
September 9, 2016: Dermatology and Therapy
J Hadoux, O Féraud, F Griscelli, P Opolon, D Divers, E Gobbo, M Schlumberger, A Bennaceur-Griscelli, A G Turhan
Multiple Endocrine Neoplasia Type 2A (MEN2A) is a cancer-predisposing syndrome that affects patients with germline RET mutations. The clinical spectrum of the syndrome includes medullary thyroid carcinoma (MTC), pheochromocytoma, hyperparathyroidism and cutaneous lichen amyloidosis (CLA) and/or Hirschsprung disease in some variants. Currently, there is no satisfactory animal model recapitulating all the features of the disease especially at the level of stem cells. We generated induced pluripotent stem cells (iPSCs) from a patient with RET mutation at codon 634 who developed pheochromocytoma and MTC...
June 27, 2016: Stem Cell Research
Kathrin Schucht, Josef Schröder, Heiko Siegmund, Claudia Grafe, Stephan Schreml
A 52-year-old woman presented with a large partially yellow and erythematous tumor on her right temple. She reported that it had grown over the last 4 years. Regional lymph nodes were impalpable. A punch biopsy showed eosinophilic material in the dermis and subcutis. Immunohistochemistry showed positive staining for kappa and lambda light chains. Electron microscopy showed the typical amyloid fibrils (7-10 nm in diameter). There was no evidence of systemic amyloidosis, paraproteinemia or underlying plasmacytoma...
May 2016: Case Reports in Dermatology
D Lipsker
Some dermatologic entities are strongly associated with the presence of a monoclonal gammopathy. They should be referred to as monoclonal gammopathy of cutaneous significance (MGCS). A short review of the main entities that fit into the spectrum of MGCS is provided. Amyloidosis, macroglobulinoderma and follicular hyperkeratotic spicules result from extravascular immunoglobulin or immunoglobulin-related protein deposition. Skin findings include papules and plaques, follicular spicules, purpura, haemorrhagic bullae, macroglossia and nail changes...
August 8, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Sonja Haverkampf, Katja Evert, Josef Schröder, Stephan Schreml
A 79-year-old man presented with a large tumor on the left side of his head, which had grown over 5 years. Regional lymph nodes were impalpable and computed tomography revealed no signs of bone infiltration. Histology showed that the entire dermis was filled with amorphous eosinophilic material. Immunohistochemistry was negative for cytokeratin, but showed that the dermis and parts of the subcutis were filled with amyloid consisting of immunoglobulin light chains. There were no signs of paraproteinemia or underlying plasmocytoma...
January 2016: Case Reports in Dermatology
Salam Abbara, Sophie Georgin-Lavialle, Katia Stankovic Stojanovic, Claude Bachmeyer, Patricia Senet, David Buob, Sylvain Audia, Véronique Delcey, Soraya Fellahi, Jean-Philippe Bastard, Fawaz Awad, Marie Legendre, Serge Amselem, Gilles Grateau
OBJECTIVES: Familial mediterranean fever (FMF) is the most common monogenic autoinflammatory disease. Hidradenitis suppurativa (HS) is an inflammatory cutaneous disease. Those diseases can occur simultaneously among the same individual. Our objective was to describe the features of patients displaying both FMF and HS. METHODS: We screened the French adult FMF reference center for FMF patients with HS. RESULTS: Six patients out of 151 (4%) with a median age of 36 years old were concerned...
May 26, 2016: Joint, Bone, Spine: Revue du Rhumatisme
Manisha Bhutani, Zainab Shahid, Alicia Schnebelen, Daisy Alapat, Saad Z Usmani
Plasma cell proliferative disorders cause rare but extremely varied dermatologic manifestations that may occur as an accompaniment to established diagnoses, or may be a first clue of an underlying neoplasm in the setting of clinical suspicion. In some instances skin lesions result from aggregation of misfolded monoclonal immunoglobulins or their fragments, as in light chain-related systemic amyloidosis. On other occasions the cutaneous lesions result from deposits of malignant plasma cells or monoclonal proteins...
June 2016: Seminars in Oncology
Taige Cao, Meixin Shen, Virlynn Tan, Ee Chee Ren, Hong Liang Tey
No abstract text is available yet for this article.
2016: Skinmed
Kapil Vyas, Manjaree Morgaonkar, Savera Gupta, Suresh Kumar Jain
Amyloidosis is a group of heterogeneous diseases characterized by pathological deposition of proteinaceous substance extracellularly in various tissues. The clinical presentation depends on the site of amyloid deposition, with predominant involvement of mesenchymal elements and cutaneous findings in 30-40% of patients in case of primary systemic amyloidosis. We present a case of idiopathic primary systemic amyloidosis presenting with an unusual finding of nodulo-ulcerative lesion over tongue along with multiple skin-colored nodules, mimicking squamous cell carcinoma of tongue with secondary cutaneous metastasis, as well as lacking the classical presentation of purpura, macroglossia, waxy papules, and plaques...
March 2016: Indian Journal of Dermatology
Shyam B Verma, Uday Khopkar
No abstract text is available yet for this article.
January 2016: JAAD Case Reports
Jun Khee Heng, Sue Ann Ho, Kong Bing Tan
Poikiloderma-like cutaneous amyloidosis (PCA) is a rare variant of primary cutaneous amyloidosis. It was first described in 1929 and there are two clinical forms of PCA, the ordinary type and PCA syndrome. The characteristics of PCA include poikiloderma-like skin changes, lichenoid papules, blister formation, and cutaneous amyloid deposits on histological examination. These skin lesions usually occur at the extremities, consistent with the few cases that have been reported. We present a case of a 62-year-old man who presented with the features of poikiloderma-like cutaneous amyloidosis...
January 2016: Dermatology Online Journal
Melissa Kanchanapoomi, Rachel Rosenstein, Marianna Shvartsbeyn, Shane A Meehan, Naomi Dolly, Alisa Femia
We present a 53-year-old woman with diffuse macular amyloidosis. We discuss the clinical manifestations, pathophysiologic mechanisms, and associations of cutaneous macular amyloidosis.
December 2015: Dermatology Online Journal
Forrest White, Marianna Shvartsbeyn, Shane A Meehan, Sarika Ramachandran
Nodular amyloidosis is the rarest form of primary cutaneous amyloidosis. We report the case of a 74-year-old woman with an eight-year history of asymptomatic, hyperpigmented plaques on the pretibial areas. A skin biopsy specimen showed deposits of amorphous eosinophilic material that extended throughout the dermis with apple-green birefringence with a Congo-red stain, which established a diagnosis of nodular amyloidosis. Patients with nodular amyloidosis should be evaluated for systemic disease and followed appropriately due to a small risk of progression to systemic amyloidosis...
December 2015: Dermatology Online Journal
Rand S Al Yahya
Primary cutaneous amyloidosis (PCA) is a condition characterized by tissue deposition of misfolded proteins. PCA can present in different forms, namely macular, lichen, and nodular amyloidosis. These lesions can be of cosmetic concern and are difficult to treat. Many therapeutic modalities have been suggested for the treatment of PCA, with variable efficacy, including topical and systemic medications, phototherapy, electrodessication, dermabrasion, cryosurgery, and lasers. Over the past decade, several studies have reported successful treatment of PCA with different types of lasers; however, a review of these studies has never been reported in the dermatologic literature...
July 2016: Lasers in Medical Science
Ryan C Romano, Daniel N Cohen, Matthew T Howard, Carilyn N Wieland
CD30-positive cutaneous lymphoproliferative disorders, a group of T-cell neoplasms, including lymphomatoid papulosis (LyP) and cutaneous anaplastic large cell lymphoma, require careful clinicopathologic correlation for diagnosis. An association between LyP and the development of a second hematolymphoid malignancy has been established in the literature. LyP has also been reported with systemic amyloidosis, but no such reports have documented coexisting cutaneous amyloid deposition with LyP to our knowledge. A 66-year-old woman with cutaneous amyloidosis, secondary to multiple myeloma, in remission, presented with erythematous and dark-brown papules involving the right arm, scalp, and torso...
May 2016: American Journal of Dermatopathology
Julien Lanoue, Nancy Wei, Peter Gorevic, Robert G Phelps
Familial amyloid polyneuropathy (FAP) is a rare inherited autosomal dominant form of systemic amyloidosis, which classically presents with severe motor, sensory, and autonomic dysfunction. Cutaneous involvement does not become clinically apparent until late stage symptomatic disease and is rarely reported in modern literature. Here, the authors review the clinical and histologic cutaneous findings of FAP previously described in the literature and report on 3 patients with unique genetic mutations (Thr60Ala and Gly6Ser; Trp41Leu; Glu89Gln) for which cutaneous involvement has not previously been described...
October 2016: American Journal of Dermatopathology
Jessica Oliboni Scapineli, Lucieli Ceolin, Márcia Khaled Puñales, José Miguel Dora, Ana Luiza Maia
Multiple endocrine neoplasia type 2A (MEN2A) may be rarely associated with cutaneous lichen amyloidosis (CLA), a skin lesion located in the interescapular region. Here, we describe 3 MEN2A-related CLA kindred and perform a systematic review (SR) of the literature on clinical, biochemical and molecular characteristics of MEN2A-related CLA patients. Thirty-eight patients with MEN2A-related CLA followed at our institution were evaluated. The median age at MEN2A diagnosis in our cohort was 25 (13-41) years, 68 % were women and all harbored codon 634 RET mutations...
October 2016: Familial Cancer
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