|Year : 2016 | Volume
| Issue : 1 | Page : 33-36
Amyloidosis cutis dyschromica: A rare dyschromic subtype of primary cutaneous amyloidosis
Anup Kumar Tiwary, Dharmendra K Mishra, Shyam S Chaudhary
Department of Dermatology, Venereology and Leprosy, Rajendra Institute of Medical Sciences, Ranchi, Jharkhand, India
|Date of Web Publication||17-Jun-2016|
Dr. Anup Kumar Tiwary
Flat No. 103, Maa Enclave Block, Cheshire Home Road, Bariatu, Ranchi - 834 009, Jharkhand
Source of Support: None, Conflict of Interest: None
Amyloidosis cutis dyschromica (ACD) is a very rare and distinctive variant of primary cutaneous amyloidosis, clinically characterized by the appearance of hyperpigmented and hypopigmented or depigmented macules on normal looking skin before puberty in generalized distribution. We herein report a 30-year-old male with ACD involving whole body except hands, feet, palm, soles, genitalia, and mucosa since 10 years of age and positive family history. His 25-year-old younger sister also had the similar mottled pigmentary lesions since 8 years of age. On histopathological examination (HPE) of the hyperpigmented macules, increased melanin in the basal layer, pigmentary incontinence, and amorphous eosinophilic deposits were seen in the papillary dermis. HPE of depigmented lesions demonstrated a significant decrease in the number of melanocytes and melanin in the basal layer along with deposition of eosinophilic amyloids in papillary dermis. Based on these HP findings, diagnosis of ACD was made.
Keywords: Amyloid deposits, amyloidosis cutis dyschromica, hypopigmented macules
|How to cite this article:|
Tiwary AK, Mishra DK, Chaudhary SS. Amyloidosis cutis dyschromica: A rare dyschromic subtype of primary cutaneous amyloidosis. Pigment Int 2016;3:33-6
| Introduction|| |
Amyloidosis cutis dyschromica (ACD) is a specific and rarer variant of primary cutaneous amyloidosis (PCA) which was first described by Morishima in 1970. It is characterized by generalized presence of hyperpigmented and hypopigmented or depigmented macules of varying size associated with no or little pruritus, prepubertal onset, and focal amyloid deposition in the papillary dermis., To the best of our knowledge, <30 cases of ACD have been described in medical literature till date. Here, we report a case of ACD with positive family history.
| Case Report|| |
A 30-year-old male presented with generalized, asymptomatic, hyperpigmented, hypopigmented, and depigmented macules involving face, chest, abdomen, back, and both upper and lower extremities since 10 years of age. Initially, the depigmented and hypopigmented macular lesions appeared on his abdomen and chest then gradually extended to involve the proximal part of upper and lower limbs and face sparing scalp, palm, soles, hands, feet, and genitalia. Patient did not complain of pruritus or photosensitivity. Erythema, telangiectasia, or atrophy was also absent. There was no history of extensive sunlight exposure, blisters, any inflammatory cutaneous conditions, or systemic illness before the onset of lesions. Furthermore, there was no history of delay of developmental milestones. He was born to nonconsanguineous parents. His younger sister, 25 years old, has similar mottled, hyperpigmented, and hypopigmented macular lesions over trunk and extremities since 8 years of age.On general physical examination, the patient was healthy and his height was 172 cm. Systemic examinations, routine laboratory parameters, and adrenocorticotropic hormone level were within normal limits. On cutaneous examination, there were multiple hyperpigmented, hypopigmented, and depigmented macules of size ranging from 1 to 15 mm involving chest, abdomen, and face. Both arms and forearms, both thighs and legs sparing palm, soles, hands, feet, and genitalia [Figure 1] and [Figure 2]. Nails, teeth, and mucosa were normal looking.
|Figure 1: Hypopigmented and depigmented macules and patches of varying size interspersed with hyperpigmented macules on the chest and abdomen|
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|Figure 2: Hypopigmented and depigmented macules of varying size interspersed with hyperpigmented macules on whole back|
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For histopathological examination, punch biopsy samples were taken from both hyper- and depigmented macular lesions on sun-protected site, i.e., lower back, stained with hematoxylin-eosin stain and seen under light microscopy. The hyperpigmented macular lesions showed increased melanin in basal layer cells and few melanophages in papillary dermis, whereas in depigmented lesion, melanocytes were very much decreased in the basal layer [Figure 3] and [Figure 4]. No changes were revealed in reticular dermis. Histopathology of both types of lesions demonstrated small, globular, pink, amorphous amyloid deposits in papillary dermis. Further, the presence of these amyloid deposits was confirmed on Congo red staining showing pinkish amorphous appearance [Figure 5].
|Figure 3: Eosinophilic globular amyloid deposits at the interface area and papillary dermis with few melanophages and increased melanin in basal layer in hyperpigmented lesion (H and E, ×40)|
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|Figure 4: Significant decrease in the number of melanocytes in basal layer of depigmented lesion (H and E, ×40)|
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|Figure 5: Congo red staining depicting pinkish amorphous amyloid deposits, chiefly at the interface area (dermoepidermal junction) (H and E, ×40)|
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Based on these peculiar clinical features, distinct histopathological findings, and positive Congo red staining, diagnosis of ACD was made and patient was advised for oral acitretin (25 mg orally daily) and periodic follow-up, but he did not turn up after that.
| Discussion|| |
Cutaneous amyloidosis has been classified into three major types: PCA, secondary cutaneous amyloidosis, and systemic cutaneous amyloidosis. The uncommon type, PCA have three subtypes which are relatively common: Lichen or papular (most common subtype of PCA), macular, and nodular or tumefactive (relatively rare). Other rarer subtypes of PCA have also been described in the literature which are dyschromic cutaneous amyloidosis or ACD, bullous, vitiliginous, familial poikiloderma -like cutaneous amyloidosis (FPLCA) and anosacral type., ACD is a rare subtype of PCA mostly reported from the Southeast Asian countries.
Clinically, ACD is characterized by the following four features:
- Mottled hyperpigmented and hypopigmented and/or depigmented macules of varying sizes without papulation all over the body
- Onset before puberty
- Usually nonpruritic or mildly pruritic
- Focal amyloid deposition in papillary dermis.
ACD is considered to be a familial disease because familial aggregations of this disease have frequently been reported in the literature as in this case report. Eng et al., in 1976, first reported its familial incidence. Choonhakarn and Wittayachanyapong, Vijaikumar, and Thappa also reported such familial cases of ACD., The pathogenesis of ACD is yet unclear but Moriwaki et al., Vijaikumar and Thappa proposed that genetic factors may lead to prolonged and defective DNA repair due to ultraviolet (UV) – B and UV – C rays and apoptosis of keratinocytes., These apoptotic keratinocytes get phagocytosed by histiocytes or fibroblasts. The cytokeratins of lysed keratinocytes give rise to the amyloid material which gets deposited in the skin.,
Reticulate pigmentation is a very characteristic finding in ACD unlike in other forms of cutaneous amyloidosis which has not been explained conclusively so far. In the previous literature, it has been attributed to the factors deciding epidermal pigment retention and dermal pigment deposition. Increased basal layer pigmentation due to hypermelanized melanocytes or increased number of melanocytes, with or without melanin sequestration within papillary dermal melanophages resulted by any cutaneous injury, will lead to cutaneous hyperpigmentation. To result in clinical hypopigmentation or depigmentation, there must be destruction of melanocytes, decreased melanosomal transfer to epidermal keratinocytes or reduced melanogenesis in melanocytes. There are few evidences in the literature which support the role of decreased melanin transfer to keratinocytes and significant loss of melanocytes in the basal layer causing hypopigmentation in ACD. Apart from this, a new hypothesis was recently proposed, suggesting the possibility of decreased density of melanocytes per unit length of the basal layer of epidermis due to stretching of basement membrane caused by papillary amyloid deposits.
There are also other cutaneous dyschromic diseases which must be ruled out for the clinical diagnosis of ACD. They are FPLCA, xeroderma pigmentosum, dyschromatosis universalis hereditaria (DUH), reticulate acropigmentation of Dohi (RAD), chronic radiodermatitis, dyskeratosis congenita, arsenical hyperkeratosis, and drug-induced dyschromia due to monobenzyl ether of hydroquinone, tetracycline, diphenylcyclopropenone, thiazides, and afloqualone.,, FPLCA can be differentiated by the presence of photosensitivity, blisters, palmoplantar keratoderma, lichenoid papules, and short stature., Absence of amyloid deposits in dermis usually rule out the possibility of DUH, DSH, xeroderma pigmentosum, and drug-induced dyschromia.
Various treatment modalities have been described for the treatment of ACD with variable success. Protection from sun exposure and use of broad spectrum sunscreen are advised to all the patients. Variable results have been seen with topical corticosteroids, keratolytics, capsaicin, dimethyl sulfoxide, oral Vitamin C and E, cryotherapy, and CO2 laser. Systemic retinoic acid derivatives have been very effective in few cases.
The authors sincerely thank Dr. Uday Khopkar for their contribution by giving valuable suggestions for the histopathological diagnosis.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]