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E-IJD-CASE REPORT |
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| Year : 2014 | Volume
: 59
| Issue : 6 | Page : 633 |
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| A familial poikiloderma-like cutaneous amyloidosis |
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Mahesh Unni, Balachandra Ankad, Varna Naidu, KM Sudakar Rao
Department of Dermatology, S. Nijlingappa Medical College, Bagalkot, Karnataka, India
| Date of Web Publication | 30-Oct-2014 |
Correspondence Address:
Mahesh Unni
Prathmesh Niwas Basweshwara Colony, Ausa Road, Latur - 413 512, Maharashtra
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0019-5154.143581
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 Abstract | | |
Familial poikiloderma-like cutaneous amyloidosis(FPLCA) is a rare, generalized but genetic dyschromic skin disorder characterized by amyloid deposits in dermis due to defective DNA repair secondary to sunlight damage. Clinically, it presents with diffuse brownish pigmentation with hypo-pigmented macules and many brownish scattered lichenoid papules with normal developmental milestones. The condition is autosomal dominant with incomplete penetrance. We are here reporting a rare familial case of FPLCA with a review of the literature
Keywords: Familial case, generalized macular amyloidosis, poikiloderma appearance
How to cite this article:
Unni M, Ankad B, Naidu V, Sudakar Rao K M. A familial poikiloderma-like cutaneous amyloidosis. Indian J Dermatol 2014;59:633 |
What was known?
Macular amyloidosis commonly presents as localized hyper pigmented patches
but very rarely can present as generalized dyschromic diffuse patches with
poikiloderma-like picture.
| Introduction | |  |
Familial poikiloderma like cutaneous amyloidosis (PLCA) is a rare generalized but genetic dyschromic skin disorder characterized by amyloid deposits in dermis due to defective DNA repair secondary to sunlight damage. Clinically, it presents with diffuse brownish pigmentation with hypopigmented macules and many brownish scattered lichenoid papules with normal developmental milestones. [1],[2],[3],[4] The exact etiology of the disease is unknown but mostly suggestive of genetic predisposition. Amyloidosis cutis dyschromica is probably a congenital disorder with hypersensitivity to Ultraviolet B and DNA repair defects due to repeated UVB damage as possible etiological factors. [5] Histopathology shows deposits of amorphous eosinophilic material in papillary dermis. No effective treatment is available. The awareness of this rare entity among dermatologist and histopathologist is important, especially in the ethnic region where it is not commonly seen. We are reporting a rare familial case of PLCA with the review of the literature.
| Case Report | | |
A 15-year-old boy presented with asymptomatic diffuse mottled pigmentation involving the entire, sparing the face, since childhood. On close examination, there was diffuse brownish pigmentation with hypo pigmented macules and many brownish scattered lichenoid papules [Figure 1]. But oral mucosa, palms, soles, nails, and genitals were normal without any color changes. There were neither changes like atrophy, telangectesia, sclerotic changes nor malar erythema noted. But since past 3-4 years, patient was getting recurrent attacks of blisters with crusting and itching particularly over exposed areas. However, systemic examinations were unremarkable. His 33-year-old father also has similar type of skin lesions since his childhood [Figure 2]. But he did not develop blisters on sun-exposed skin. The mental and developmental milestones of the patients were normal. His younger brother and mother were normal. There was a history of consanguineous marriage, indicating a role of autosomal dominant with incomplete penetrance. | Figure 2: Generalized poikiloderma like cutenous changes in a father and son
Click here to view |
After biopsy from both hyper and hypopigmentation lesions from both father and son, which showed typical changes of amyloid deposits in papillary dermis on H and E stains as amorphous, hazy deposits, it is confirmed by special stain like congo red [Figure 3]. His routine blood, kidney, and liver function tests were normal. Ultrasonography of abdomen and chest X-ray reports were normal. Thyroid hormone levels were within normal limits. | Figure 3: Papillary dermis showing purple red deposits (congo red stain; ×40)
Click here to view |
A clinical diagnosis of familial poikiloderma like cutaneous amyloidosis (FPLCA) was made after going through literature and classification of primary cutaneous amyloidosis. [4],[5],[6]
| Discussion | | |
Primary cutaneous amyloidosis (PCA) is an uncommon dermatosis which usually presents with macular or lichenoid types. But FPLCA is a rare clinical type of primary cutaneous amyloidosis, described by Morishma from Japan in 1970. His patient had similar clinical features as in our patients: prepubertal onset, rippled hyperpigmentation with interspersed hypopigmented macules without atrophy, mild to absence of pruritus, and amyloid deposits in papillary dermis. [1]
The exact etiology of the disease is unknown but probably suggestive of genetic predisposition. Amyloidosis cutis dyschromica is mostly a congenital disorder with hypersensitivity to UVB and DNA repair defects due to repeated UVB damage as possible etiological factors. Due to this repeated damage to keratinocytes there is production of amyloid materials in the skin leading to hyperpigmented and hypopigmented xerotic lesions in sun-exposed areas. The condition usually presents in early life and persists for many years or for lifetime. [2],[3],[4]
Amyloid is usually detected as homogenous eosinophilic material in the papillary dermis on H and E stain. However, to confirm diagnosis, special stains like Congo red or crystal violet are used. It gives green birefringence with Congo red when viewed under polarized microscopy. This is because of perpendicular arrangement of fibrillary deposits. Rarely, immunohistochemistry can be used to identify anticytokeratin antibodies. [6],[7]
The clinical differential diagnosis are xeroderma pigmentosum, dyschromatosis universalis hereditaria, and other rare types of amyliodosis cutis dyschromica. [5]
Although PCA is a common acquired skin condition but rarely it can present as generalized presentation with a familial occurrence. Hence, observation made by us will be the first reported case of familial PLCA from India, which may help in the awareness of this rare entity among dermatologists, especially in the ethnic regions where it is not commonly seen. The treatment of this rare genetic disease is not well documented, but photo protection, antioxidants, and acitretin are tried with variable results. [5]
| Conclusion | | |
In this report, we are reporting a rare case of FPLCA; only few cases are reported worldwide so far, most are from Japan and China. To the best of our knowledge, this is the first case report from India. We strongly advise clinicians who come across a case of generalized mottled pigmentation, consisting of asymptomatic hyper pigmented and hypopigmented macules, that amyloidosis cutis dyschromica must be considered in the differential diagnosis and histopathological confirmation should be made to reach a diagnosis. A detail family and genetic history should be evaluated in such cases.
| References | | |
| 1. | Morishima T. A clinical variety of localised cutaneous amyloidosis characterized by dyschromia. Jpn J Dermatol 1970;80:43-52. 
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| 2. | Serna-Perez MJ, Vazquez-Doval FJ, Idoate M, Sola Casas MA, Quintanilia E. Extensive macular amyloidosis associated with poikiloderma. Int J Dermatol 1992;31:277-8.
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| 3. | Moriwaki S, Nishigori C, Horiguchi Y, Imamura S, Toda K, Takebe H. Amyliodosis cutis dyschromica. DNA repair reduction in cellular response to UV light. Arch Dermatol 1992;128:966-70.
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| 4. | Kudur MH, Sathish PB, Sripathi H, Prabhu S. Unusal presentation of generalized macular amyloidosis in a young adult. Indian J Dermatol Venerol Leprol 2008;53:201-3.
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| 5. | Madarsingha NP, Satgurunathan K, De silva MV. A rare type of primary cutenous amyloidosis: Amyloidosis cutis dyschromica. Int J Dermatol 2010;49:1416-18.
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| 6. | Martin M B, Edward U, Sandra A. Amyloidosis. In: Jean L Bolognia, editor. Text book of Dermatology. 2 nd ed. Noida, India: Elsevier; 2009. p. 623-31.
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| 7. | Apaydin R, Gürbüz Y, Bayramgürler D, Müezzinoglu B, Bilen N. Cytokeratin expreession in lichen and macular amyloidosis. J Eur Acad Dermatol Venereo 2004;18:305-9.
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What is new?
We report a familial case of PLCA in a son and father. This is the fi rst familial
report from India. In addition, son has photo allergic contact dermatitis feature.
[Figure 1], [Figure 2], [Figure 3] |
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