264 Briefcommunications Journal of the American Academy of Dermatology February 1994 Palmoplantar pigmentation: A clue to alkaptonuric ochronosis Shiela Cherian, MD Tamil Nadu, South India Endogenous or alkaptonuric ochronosis is a rare metabolic disorder in which deficiency of the en- zyme homogentisic acid oxidase causes pigment deposition in various tissues. A patient in whom paI- moplantar pigmentation led to a diagnosis of alkap- tonuria is described. CASE REPORT A 45-year-old woman had progressive pigmentation of the palms for 2 years. The skin of the thenar and hypoth- enar eminences and lateral index fingers showed spotty blue-black hyperpigmentation in association with patchy thickening and pitting. The skin over the medial heels showed similar but less severe changes. The patient also had hyperpigmentation, thickening, and reduced flexibil- ity of the pinnae. Both sclera contained black pigmented patches. The nail plates had a gray discoloration. On further questioning, the patientstated that she had had low back pain for 10 years and pain in the knees and shoulders for 5 years. Since childhood she had noticed that her urine left a black stain on drying. There was no family history of consanguinity or of similar problems in close relatives. She denied the topical or systemic use of any substance that could be incriminated as a cause ofher pigmentation. A sample of urine discolored after exposure to sunlight. Urine treated with alkali turned black. A roentgenography of the spine showed striking intervertebral calcification. A biopsy specimen from the palm showed hyperkera- tosis,mild irregular acanthosis, and hypergranulosis with irregular scattering of collagen bundles and clastic fibers in the mid dermis. Many collagen fibers were irregular and swollen with a yellow-brown pigment. The pigment, which was also seen free in the dermis and in macro- phages, was stained darkly with methylene blue. DISCUSSION Alkaptonuria, an autosomal recessive disease, has an incidence of about 1:1,000,000. A deficiency of From the Christian FellowshipCommunity Health Centre, Ambilikkai. Reprint requests: Shiela Chcrian, MD, Christian Fellowship Commu- nity Health Centre, Ambilikkai - 624 612, Dindigul District, Tamil Nadu, South India. JAM ACAD DERMATOL 1994;30:264-5. Copyright (C) 1994 by the American Academy uf Dermatology, Inc. 0190-9622/94$1.00 + .10 16/54/49376 Fig. 1. Spotty blue-black pigmentation on the palms in association with patchy thickening and pitting. Fig. 2. Photomicrograph showsochronotic pigment ly- ing within swollen irregular collagen bundles and free in the dermis. (Methylene blue stain; X60.) the enzyme homogentisic acid oxidase leads to a de- rangement in the metabolism of phenylalanine and tyrosine. Accumulated homogentisic acid is ex- creted in the urine and can be demonstrated by black discoloration of a urine sample on exposure to sun- light or alkali. Pigment derived from polymerized homogentisic acid is deposited in the skin, joints, eye, genitouri- nary tract, and cardiovascular system. Discoloration
Transcript
264 Brief communicationsJournal of the American Academy of Dermatology
February 1994
Palmoplantar pigmentation: A clue to alkaptonuric ochronosis
Shiela Cherian, MD Tamil Nadu, South India
Endogenous or alkaptonuric ochronosis is a raremetabolic disorder in which deficiency of the enzyme homogentisic acid oxidase causes pigmentdeposition in various tissues. A patient in whom paImoplantar pigmentation led to a diagnosis of alkaptonuria is described.
CASE REPORT
A 45-year-old woman had progressive pigmentation ofthe palms for 2 years. The skin of the thenar and hypothenar eminences and lateral index fingers showed spottyblue-black hyperpigmentation in association with patchythickening and pitting. The skin over the medial heelsshowed similar but less severe changes. The patient alsohad hyperpigmentation, thickening, and reduced flexibility of the pinnae. Both sclera contained black pigmentedpatches. The nail plates had a gray discoloration.
On further questioning, the patient stated that she hadhad low back pain for 10years and pain in the knees andshoulders for 5 years. Since childhood she had noticedthat her urine left a black stain on drying. There was nofamily history of consanguinity or of similar problems inclose relatives. She denied the topical or systemic use ofany substance that could be incriminated as a cause ofherpigmentation.
A sample of urine discolored after exposure to sunlight.Urine treated with alkali turned black. A roentgenographyof the spine showed striking intervertebral calcification.
A biopsy specimen from the palm showed hyperkeratosis,mild irregular acanthosis, and hypergranulosis withirregular scattering of collagen bundles and clastic fibersin the mid dermis. Many collagen fibers were irregularand swollen with a yellow-brown pigment. The pigment,which was also seen free in the dermis and in macrophages, was stained darkly with methylene blue.
DISCUSSION
Alkaptonuria, an autosomal recessive disease, hasan incidence of about 1:1,000,000. A deficiency of
From the Christian Fellowship Community Health Centre, Ambilikkai.
Reprint requests: Shiela Chcrian, MD, Christian Fellowship Community Health Centre, Ambilikkai - 624 612, Dindigul District, TamilNadu, South India.
JAM ACAD DERMATOL 1994;30:264-5.
Copyright (C) 1994 by the American Academy uf Dermatology, Inc.
0190-9622/94$1.00 + .10 16/54/49376
Fig. 1. Spotty blue-black pigmentation on the palms inassociation with patchy thickening and pitting.
Fig. 2. Photomicrograph showsochronotic pigment lying within swollen irregular collagen bundles and free inthe dermis. (Methylene blue stain; X60.)
the enzyme homogentisic acid oxidase leads to a derangement in the metabolism of phenylalanine andtyrosine. Accumulated homogentisic acid is excreted in the urine and can be demonstrated by blackdiscoloration of a urine sample on exposure to sunlight or alkali.
Pigment derived from polymerized homogentisicacid is deposited in the skin, joints, eye, genitourinary tract, and cardiovascular system. Discoloration
Journal of the American Academy of DermatologyVolume 30, Number 2, Part 1
of the skin is usually evident by the fourth decadeand is most prominent on the forehead, cheeks, axillae, and genitalia. Whereas cutaneous involvementis asymptomatic, skeletal involvement is a majorcause of morbidity. Large joints like the knee,shoulder, hip, and spine are the most severelyaffected.
In this patient cutaneous ochronosis was mostmarked on the palms. To my knowledge this featurehas not been previously reported, In the darkskinned races a faint pigmentation may not be clinically evident, and areas of lighter skin such as thepalms may be the first to show a generalized pigmentdisorder.
The close association of the pigment depositionwith sunlight-induced dermal degeneration was alsoremarkable. Solar elastotic material contains a largeamount of acid mucopolysaccharides. I Gaines/stated that ochronotic pigment has a particular af-
Briefcommunications 265
finity for collagen fibers that are surrounded. byabundant mucopolysaccharide ground substance.Electron microscopic studies have documented deposits of pigment surrounding collagen fibers in areas of solar elastosis.' Jordaan and Mulligan4 described a patient with exogenous ochronosis inwhom superimposed actinic granuloma-like lesionsdeveloped.
REFERENCES
I. Lever W, Schaumburg-Lever G. Degenerative diseases. In:Histopathology of the skin. 6th ed. Philadelphia: JB Lippincott, 1983:271-2.
2. Gaines JJ. The pathology of alkaptonuric ochronosis. HumPathol 1989;20:40-6.
3. Attword HD, Clifton S, Mitchell RE. A histological histochemical and ultrastructural study of dermal ochronosis.Pathology 1971;3:1IS-9.
Dermal spherulosis (myospherulosis) after topical treatment for psoriasis
Aneta Lazarov, MD,a Ilana Avinoach, MD,b Hani Giryes, MD,a and Sima Halevy, MDaBeer-Sheva, Israel
Myospherulosis, first described in 1969 by MeClatchic et aI.,1,2 refers to the histopathologicchanges of "sac-like structures with endobodies" insoft tumors of the subcutaneous tissue and muscles.The previously assumed primary infectious causehas been disprovede' because there is evidence thatthe "spherules" are derived from erythrocytes altered by foreign lipids and human fat. 5.8
Although there are many reported cases of myospherulosis in the otorhinolaryngologic and dentalIiterature.v 7, 9-12 the condition has not been described frequently in the dermatologic literature.Published case reports have focused on changes inthe subcutaneous adipose tissue 13, 14 and on some
From the Department of Dermatology' and Institute of PathologY,bSoroka Medical Center, Faculty of Health Sciences, Ben-GurionUniversity of the Negev.
Reprint requests: Aneta Lazarov, MD, Department of Dermatology,P.O. Box lSI, Beer-Shcva841OI,Israei.
J AM ACAD DERMATOL 1994;30:265-7.
Copyright@ 1994 by the American Academy of Dermatology, Inc.
0190.9622/94 $1.00 + .10 16/54/49370
occasions the condition has been related to intramuscular injection.f 13
We report an unusual case of spherulocyticchanges confined only to the dennis that developedafter prolonged topical treatment of psoriasis.
CASE REPORT
A 63-year-old man had a long history of psoriasis withfrequent exacerbations of psoriatic erythroderma andpustular psoriasis. He had been treated with etrctinate,PUVA, UVB rays, Goeckerman regimen, anthralin ointment, and topical steroidal ointments (both with andwithout occlusion) for many years. The patient was admitted to the hospital for treatment of psoriatic erythroderma. Examination revealed generalized erythema,edema, and scaling. After the erythroderma subsided,infiltration and thickening of the skin in the sacroiliacareawere noted.A biopsy specimenshoweda thickenedhornylayerwithareasof parakeratosis,a hyperplasticepidermiswith features of psoriasiform spongiotic dermatitis. Apronounced perivascular mononuclear inflammatory infiltrate composed predominantly of lymphocytes, somehistiocytes, plasma cells, and eosinophils was present inthe papillarydermis. In the same area, predominantlyin
