Lipoid Proteinosis: A Case Report

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Cameo Oxford, UK International IJD Blackwell 0011-9059 45 Science, Publishing Journal LtdLtd, of Dermatology 2003

Lipoid proteinosis: a case report Lipoid proteinosis Galadari CAMEO and Al-Kuwaiti

I. Galadari, and R. Al-Kuwaiti

From the Dermatology Department, FMHS, U.A.E. University, U.A.E.

Correspondence Galadari I., MD, Associate Professor PO Box 8716 Dubai U.A.E. E-mail: [email protected]

Case Report A 5-year-old Egyptian boy, who was the second of five siblings born to nonconsanguineous parents. He was the product of a full-term, normal pregnancy. He presented to our clinic with a history of hoarseness of voice since the age of 4 months, followed by erythematous, andpapulonodular lesions on the face, ears, extremities, and occasionally on the trunk. The lesions healed with scarring. Subsequently he was observed to have a progressive thickening of the skin of the face, extremities, and tongue. There was no family history associated with his condition, no previous treatment was given, and there were no other systemic manifestations. On examination, his height, weight, and head circumference were at the 50th percentile and his mental development was normal. There were yellow-white infiltrations on the tongue, buccal mucosa and palate. His tongue was woody hard, thick and its mobility was limited Fig. 1. The skin examination revealed yellowish, thickened skin over the extremities, face,

back and trunk with multiple, depressed, acneiform scars Figs 2 and 3. The remainder of the general physical and systemic examination was normal. Routine investigation, including complete blood count, liver function, serum biochemistry, renal function and ESR were within normal range. Laryngoscopic examination, electroencephalogram (EEG) and cranial computed tomography (CT) scanning revealed no abnormality. The histopathologic examination of the skin biopsy specimens obtained from the elbow and dorsum of the hand showed hyperkeratosis of the epidermis, and periodic acidSchiff-positive PAS(+) staining hyaline material around the dermal capillaries and sweat glands, and confirmed the diagnosis of lipoid proteinosis. Discussion Lipoid proteinosis, also called hyalinosis cutis et mucosae and Urbach-Wiethe disease, is a very rare, recessively inherited

Figure 2 Diffuse thickening of skin of the face and elbows with 368

Figure 1 Thickened woody tongue, and fissured lips International Journal of Dermatology 2004, 43, 368–370

depressed acneiform scars © 2004 The International Society of Dermatology

Galadari and Al-Kuwaiti

Figure 3 Warty and hyperkeratotic papular and nodular lesions

on the back and shoulders

disorder characterized by infiltration of hyaline material into the skin, oral cavity, larynx and internal organs. It occurs with equal frequency in both males and females.1,2 The nature of the hyaline material and underlying metabolic defect is still unknown. It has been suggested that lipoid proteinosis may represent a lysosomal storage disease as a result of single or multiple enzyme defects.2,3 The first clinical sign is often hoarseness of voice, which presents at birth as a weak cry or developed later, within the first few years of life.4,5 In our case, hoarseness was the first symptom noticed. Skin lesions usually develop during the first 2 years of life or may appear later. They consist of pustules and crusts that heal with “ice-pick” acneiform scars or yellowish, waxy papules, nodules, or plaques that may coalesce to result in diffuse thickening of the skin.5 The lesions are primarily distributed on the face and extremities, rarely elsewhere, including the neck, axillae, and trunk. Scalp involvement may lead to loss of hair.5,6 The classic and most easily recognizable sign is the beaded papules on the eyelid margins (moniliform blepharosis).1 Typical skin lesions were observed in our patient and were noted to appear at approximately 1 year of age. In addition to hoarseness of voice, the diffuse infiltration of the pharynx and larynx may lead to dysphagia and respiratory insufficiency, at times requiring tracheostomy.7 The mucosae of the tongue and lips soon develop firm, yellowwhite infiltrates. The tongue is enlarged and feels firm on palpation and its range of movement decreased, so that the patient is usually unable to protrude it beyond the margins of the lips.2,8 Involvement of gingivae, xerostomia, and various dental anomalies have also been reported.9 Thickening of the tongue and lips with fissuring was observed in our patient. Deposition of hyaline material in the conjunctiva, cornea, trabeculum, and retina (Bruch’s membrane) have been described.10 Corneal opacities or secondary glaucoma as a result of infiltration in the trabeculum may appear later. Brain CT may show characteristic bean-shaped, bilateral fairly © 2004 The International Society of Dermatology

Lipoid proteinosis Cameo

dense, para-sellar calcification mainly in the temporal lobe. These changes are often seen after the age of 10 years.9,11 It may be associated with epilepsy, memory loss, and schizophrenic behavior, but such manifestations did not occur in our case. Deposition of hyaline material in the small bowel may lead to intestinal bleeding.12 On histopathologic examination, the epidermis shows hyperkeratosis and irregular acanthosis. The dermis is thickened, the upper half containing extracellular hyaline material deposited along the course of capillaries and concentrically around swat coils. This hyaline material is periodic acidSchiff-positive but diastase resistant.2,13 Electron microscopic studies reveal striking nodules of noncollagenous material at the dermoepidemal junction.6,13 Skin biopsy specimens of our patient showed characteristic findings of LP. Around the blood vessels and appendages, accumulations of type IV and type V collagen occur; type I and type III collagen are reduced.2,8,14 There is presently no effective therapy for lipoid proteinosis. Various treatment modalities including dimethyl sulfoxide, surgical procedures, carbon dioxide laser, and etretinate can be used.15 Conservative treatment only has been given to our patient. Generally, lipoid proteinosis runs a benign course and is compatible with normal life expectancy.1,2,16

References 1 Lapiere M. Lipoid proteinosis. In: Fitzpatrick TB, Eisen AZ, Wolf, K et al., eds. Dermatology in General Medicine, 4th edn. New York: McGraw-Hill, 1993: 1937, 1940. 2 Black MM. Lipoid proteinosis. In: Textbook of Dermatology, 5th edn. Oxford: Blackwell Scientific Publications, 1993: 2347–2348. 3 Leheup BP, Jeandel C, Guedenet JC, et al. Hyalinosis cutis and mucosa. Ultrastructural histochemical aspects indicating intracellular accumulation of glycosaminoglycans. Ann Pathol 1986; 6: 59. 4 Savage MM, Crockett DM, Mccabe BF. Lipoid proteinosis of the larynx: a cause of voice change in the infant and young child. Int J Pediatr Otol 1988; 15: 38. 5 Touart DM, Sau P. Cutaneous deposition diseases. Part 1 J Am Acad Dermatol 1998; 39: 171. 6 Newton JA, Rasbridge S, Temple A, et al. Lipoid proteinosis – new immunopathological observations. Clin Exp Dermatol 1991; 16: 354. 7 Ramsey ML, Tschen JA, Wolf JE. Lipoid proteinosis. Int J Dermatol 1985; 24: 232. 8 Arnold HL, Odom RB, James WD. Andrews’ Disease of the Skin, 8th edn. Philadelphia: W.B. Saunders 1990, 609, 610. 9 Aroni K, Lazaris AC, Papadimitriou K, et al. Lipoid proteinosis of the oral mucosa: Case report and review of the literature. Pathol Res Pract 1998; 194: 859. 10 Francois J, Bacskulin J. Manifestations oculaires du syndrome d’Urbach Wiethe. Opthalmologica 1968; 155: 438. International Journal of Dermatology 2004, 43, 368 –370



Cameo Kikuchi–Fujimoto Lipoid proteinosisdisease: remission with ciprofloxacin

11 Francis RS. Lipoid proteinosis. Radiology 1979; 117: 302. 12 Caccano D, Jaen A, Telenta M, et al. Lipoid proteinosis of the small bowel. Arch Pathol Lab Med 1994; 1118: 574. 13 Williamson BK, Island R. Histology of lipoid proteinosis. JAMA 1994; 272: 565. 14 Muda AO, Paradisi M, Angelo C, et al. Lipoid proteinosis:

Galadari Mahajan and and Al-Kuwaiti Sharma

clinical, histologic and ultrastructural investigations. Cutis 1995; 56: 224. 15 Rosenthal G, Lifshitz T, Monos T. Carbon dioxide laser treatment for lipoid proteinosis (Urbach–Wiethe syndrome) involving the eyelids. Br J Dermatol 1997; 81: 253. 16 Bohme W, Wahlgren CF. lipoid proteinosis in the three children. Acta Pediatr 1996; 85: 1005.


Kikuchi–Fujimoto disease: immediate remission with ciprofloxacin Kikuchi–Fujimoto disease: remission with ciprofloxacin

Vikram K. Mahajan, MD, and Nand L. Sharma, MD

From the Department of Dermatology, Indira Gandhi Medical College, Shimla, India Correspondence N. L. Sharma, MD Department of Dermatology Indira Gandhi Medical College Shimla 171001 India E-mail: [email protected]

An 18-year-old, human immunodeficiency virus (HIV)-negative, male patient was referred for dermatologic opinion for reactive hyperplasia of the cervical lymph nodes on fine needle aspiration cytology. History revealed multiple, painful, progressively enlarging, left cervical lymph nodes associated with episodes of moderate to high fever for more than 1 year. There was no history of previous cutaneous lesions. On examination, the patient was afebrile and showed three left supraclavicular lymph nodes, 2 – 4 cm in size, which were discrete, tender, of firm to hard consistency but with normal overlying skin. Cutaneous and systemic examination was normal. Hemogram, hepatorenal function, and chest X-ray film showed no significant abnormality, and the Mantoux test was negative. With the clinical possibilities of lymphoma, sarcoidosis, or tubercular lymphadenitis, one of the excised lymph nodes was subjected to histopathologic examination and acid-fast bacilli (AFB) culture. The patient was given ciprofloxacin, 500 mg orally twice daily. The histopathology report became available 1 week later and showed a thickened capsule infiltrated by chronic inflammatory cells. There were large areas of necrosis with nuclear debris palisaded by histiocytes and a peripheral rim of lymphocytes. Occasional vessels also showed fibrinoid necrosis. Features of lymphoma, sarcoidosis, and tuberculosis were absent and the stain for AFB was negative. Despite the histopathology, suggesting histiocytic necrotizing lymphadenitis, tests performed for antinuclear antibodies were negative. Culture of the lymph node specimen on Lowenstien Jensen (LJ) medium for AFB did not show any growth. After 10 days of treatment with ciprofloxacin, the patient showed complete regression of lymphadenopathy. He is being regularly followed up.

Discussion Kikuchi–Fujimoto disease (KFD) is a rare form of necrotizing lymphadenitis, also known as histiocytic necrotizing lymphadenitis. It is a benign, self-limiting disorder of unknown etiology. It affects both sexes, especially young adults, and is four times more common in females.1,2 It presents with lymphadenopathy, frequently cervical, and firm to rubbery in consistency, and is often associated with fever. More severely International Journal of Dermatology 2004, 43, 368–370 370 – 372

affected patients may exhibit weight loss, splenomegaly, leukopenia, and an elevated erythrocyte sedimentation rate (ESR).3 Cutaneous lesions, seen in about 30% of cases, are nonspecific and include erythematous papules, plaques, acneiform or morbilliform lesions, and facial erythema.3,4 Mucosal involvement in the form of oropharyngeal redness and ulceration may occur.5 KFD needs to be differentiated from systemic lupus erythematosus (SLE) and lymphoma. It may also be confused with cat-scratch disease, Sweet’s © 2004 The International Society of Dermatology

Mahajan and Sharma

syndrome, Still’s disease, infectious mononucleosis, drug eruptions, and viral or tubercular lymphadenitis.6 It is often missed in the differential diagnosis of patients presenting with fever and lymphadenopathy owing to its rarity, similarity to other common conditions, and lack of awareness. As the diagnosis is mainly histopathologic, an early lymph node biopsy will avoid unnecessary investigations and therapeutic trials. By 1998, about 400 cases had been reported.5 Although the majority of the reported cases are from Japan, the disease is being recognized all over the world. A recent Med-line search revealed about 116 hits for KFD in different languages from several countries. Seven reports comprising about 15 cases were from India. KFD is a clinical entity which needs to be evaluated more carefully as its diagnosis is based exclusively on histopathology and it may mimic non-Hodgkin’s lymphoma, especially in its proliferative phase.7 The involved lymph nodes show focal or complete loss of follicular architecture with necrosis of the cortical and paracortical areas. The extensive infiltrate consists of small lymphocytes, immunoblasts, histiocytes, and plasmacytoid T-cells.8 The absence of a monoclonal T-cell receptor rearrangement, however, excludes the possibility of T-cell lymphoma. Furthermore, its spontaneous regression and oligoclonal pattern imply a more benign immune reaction.9 It can be diagnosed using fine needle aspiration histology, with an overall accuracy of about 56% in a retrospective study; the features vary from nonspecific reactive lymphadenitis to those of KFD.10 Although it may not be diagnostic of KFD, it will provide a clue for other common causes of lymphadenopathy. An early biopsy is recommended, however, as the disease may be mistaken for SLE or, more seriously, lymphoma. Although the absence of neutrophils is characteristic of KFD, it is also a feature of lupus lymphadenitis.5 Both share a complex and an as yet unelucidated relationship. SLE may occasionally precede, develop subsequently, or sometimes be associated with KFD. Some authors also suggest that KFD could be a common aspect of SLE in view of the similar immunologic events occurring in the lymph nodes.11,12 A tubuloreticular structure in human lymph nodes is not seen, except in cases of SLE; however, the detection of this peculiar structure of unknown origin in an ultrastructural study of necrotizing lymphadenitis suggests a direct relationship of SLE and KFD.12 In addition, the key distinguishing histologic feature of SLE lymphadenitis is the presence of an amorphous aggregate of basophilic material, known as hematoxylin bodies.13 Similarly, the association of KFD with hemophagocytic syndrome suggests a common pathogenesis.14 Cutaneous lesions of KFD show histologic heterogeneity, characterized by vacuolar interface changes, a superficial and deep perivascular as well as interstitial lymphohistiocytic infiltrate, and papillary dermal edema. The presence of abundant nuclear debris, the absence of neutrophils, and the © 2004 The International Society of Dermatology

Kikuchi–Fujimoto disease: remission with ciprofloxacin Cameo

paucity of plasma cells, however, are similar to the nodal histology in KFD.15,16 Infections with human immunodeficiency virus (HIV), human herpes virus, parvovirus B19, cytomegalovirus, Epstein–Barr virus, and dengue virus have been found in association with KFD.5,17 A postviral hyperimmune reaction has been proposed to trigger KFD, but the exact relationship remains obscure.18,19 B-cell lymphoma, rupture of silicon breast implants, and infections due to Yersinia enterocolitica, Toxoplasma, cat-scratch disease, and Mycobacterium szulgai may also trigger KFD.5,20,21 Although treatment with prednisolone hastens resolution, in most cases no treatment is needed as the disease tends to resolve in about 1–6 months.22 An immediate remission of KFD with minocycline has been reported, which also indicates a microbial etiologic factor.23 A recurrence rate of 3.3% has also been documented in resolved cases.24 The regression of lymphadenopathy after ciprofloxacin in our patient, in the absence of any obvious associated triggering factors, suggests an association of a ciprofloxacin-sensitive microorganism in the etiology of KFD. A spontaneous remission of lymphadenitis in our patient seems unlikely as the disease had been present for more than 1 year before treatment. Acknowledgments Dr Kim Vaiphei (Department of Pathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India) provided help with the histopathology results. References 1 Dorfman RF, Berry GJ. Kikuchi’s histiocytic necrotizing lymphadenitis: an analysis of 108 cases with emphasis on differential diagnosis. Semin Diagn Pathol 1988; 5: 329 –345. 2 Carcia C, Girdhar-Gopal HV, Dorfman D. Kikuchi– Fujimoto disease of the neck: update. Ann Otol Rhinol Laryngol 1993; 102: 11–15. 3 Kuo T. Cutaneous manifestations of Kikuchi’s histiocytic necrotizing lymphadenitis. Am J Surg Pathol 1990; 14: 872–876. 4 Kaur S, Thami GP, Mohan H, et al. Kikuchi disease with facial rash and erythema multiforme. Pediatr Dermatol 2001; 18: 403–405. 5 Rowell NR, Goodfield MJD. Kikuchi disease and SLE. In: Champion RH, Burton JL, Burns DA, Breathnach SM, eds. Textbook of Dermatology, 6th edn. Oxford: Blackwell Science, 1998: 2494–2495. 6 Malbran A, Mejia R, Elsner B. Kikuchi–Fujimoto necrotizing lymphadenitis. Report of two cases. Medicina (B Aires) 2000; 60: 947 – 950. 7 Pai SA, Naresh KN, Soman CS, Borges AM. Pseudolymphomatous phase of Kikuchi–Fujimoto disease. Indian J Cancer 1998; 35: 119 – 128. International Journal of Dermatology 2004, 43, 368 370 – 370 372



Cameo Kikuchi–Fujimoto disease: remission with ciprofloxacin

8 Rivano MT, Falini B, Stein M, et al. Histiocytic necrotizing lymphadenitis without granulocyte infiltration (Kikuchi lymphadenitis). Morphological and immunohistochemical study of eight cases. Histopathology 1987; 11: 1013 – 1027. 9 Lin CW, Chang CL, Li CC, et al. Spontaneous regression of Kikuchi lymphadenopathy with oligoclonal T-cell populations favors a benign immune reaction over a T-cell lymphoma. Am J Clin Pathol 2002; 117: 627 – 635. 10 Tong TR, Chan OW, Lec KC. Diagnosing Kikuchi disease on fine needle aspiration biopsy: a retrospective study of 44 cases diagnosed by cytology and 8 by histopathology. Acta Cytol 2001; 45: 953 – 957. 11 Tumiati B, Bellelli A, Portioli I, et al. Kikuchi’s disease in systemic lupus erythematosus: an independent or dependent event? Clin Rheum 1991; 10: 90 – 93. 12 Imamura M, Ueno H, Matsuura A, et al. An ultra structural study of subacute necrotizing lymphadenitis. Am J Pathol 1982; 107: 292 – 299. 13 Eisner MD, Amory J, Mullaney B, et al. Necrotizing lymphadenitis associated with systemic lupus erythematosus. Semin Arthritis Rheum 1996; 26: 477 – 482. 14 Kelly J, Kelleher K, Khan MK, et al. A case of haemophagocytic syndrome and Kikuchi–Fujimoto disease occurring concurrently in a 17-year-old female. Int J Clin Pract 2000; 54: 547–549. 15 Spies J, Foucar K, Thompson CT, et al. The histopathology of cutaneous lesions of Kikuchi’s disease (necrotizing lymphadenitis): a report of five cases. Am J Surg Pathol 1999; 23: 1040 –1047.

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16 Yasukawa K, Matsumura T, Sato-Matsumura KC, et al. Kikuchi’s disease and the skin: case report and review of the literature. Br J Dermatol 2001; 144: 885 – 889. 17 Harris VK, Danda D, Murali NS, et al. Unusual association of Kikuchi’s disease and dengue virus infection evolving into systemic lupus erythematosus. J Indian Med Assoc 2000; 98: 391 – 393. 18 Stephen JL, Jeannoel P, Chanoz J, et al. Epstein–Barr virus associated Kikuchi disease in two children. J Pediatr Hematol Oncol 2001; 23: 240 – 243. 19 Madle-Samardzija N, Turkulov V, Vukadinov J, et al. Histiocytic necrotizing lymphadenitis (Kikuchi–Fujimoto disease). Med Pregl 2000; 53: 513 – 516. 20 Yoshino T, Mannami T, Ichimura K, et al. Two cases of histiocyctic necrotizing lymphadenitis (Kikuchi–Fujimoto’s disease) following diffuse B-cell lymphoma. Hum Pathol 2000; 31: 1328 – 1331. 21 Mack-a-nantawat W, Viriyavejakul P. Mycobacterium szulgai lymphadenitis mimicking Kikuchi’s disease in Thailand. Southeast Asian J Trop Med Public Health 2001; 32: 537 – 540. 22 Baumgartner BJ, Helling ER. Kikuchi’s disease: a case report and review of the literature. Ear Nose Throat J 2002; 81: 331 – 335. 23 Takada K, Suzuki K, Hidaka T, et al. Immediate remission obtained by minocycline in a patient with histiocytic necrotizing lymphadenitis. Intern Med 2001; 40: 1055–1058. 24 Kuo TT. Kikuchi’s disease (histiocytic necrotizing lymphadenitis): a clinicopathologic study of 79 cases with an analysis of histological subtypes, immunohistology, and DNA ploidy. Am J Surg Pathol 1995; 19: 789–809.

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