Journal of Clinical and Aesthetic Dermatology

APR 2018

An evidence-based, peer-reviewed journal for practicing clinicians in the field of dermatology

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25 JCAD JOURNAL OF CLINICAL AND AESTHETIC DERMATOLOGY April 2018 • Volume 11 • Number 4 C A S E R E P O R T A Amyloidoses are a group of protein misfolding diseases in which the accumulation of protein aggregates occur either systemically or locally. In local amyloidosis, beta-pleated amyloid deposits are restricted to a particular organ. 1 It is grouped into 1) neurodegenerative conditions where aggregation is seen in the brain and 2) non-neuropathic conditions in which other tissues are affected—for example, the skin. 2 Alzheimer's disease and cutaneous amyloidosis are the two conformational disorders in which a skin-brain connection has been established. Genes such as presenilin-1 and apolipoprotein E (ApoE4) play roles in amyloidogenesis in the skin and brain. 3 Amyloidogenic material presenting outside of the central nervous system can have a direct impact in neurodegenerative amyloidosis. In this case report, we attempt to explain the correlation between brain and skin amyloidopathy. CASE REPORT A 57-year-old male patient presented to the skin outpatient department with a seven-year history of hyperpigmentation and severe itching on the face, upper back, abdomen, and bilateral extensor aspects of the arms and legs. The feeling was associated with a thickening of the skin over the affected areas. On examination, dark brown-black irregular macules were present on the face, upper back, and abdomen. On the extremities, the macules had coalesced to form diffuse reticulate patterns of pigmentation (Figure 1). Concurrently, the patient had developed dementia, confusion, and aphasia. His Mini- Mental State Examination (MMSE) score was 11. On the basis of his MMSE score, the patient was labeled as having severe dementia with a probable diagnosis of Alzheimer's disease. Consequently, a magnetic resonance imaging brain scan was advised, which showed prominence of the corticosulcal paces involving the bilateral temporoparietal lobes and prominence of both lateral ventricles suggestive of cortical atrophy, thus confirming the diagnosis of Alzheimer's disease. Dermoscopy was done using a DermLite® DL3N dermatoscope (3Gen Inc., San Juan Capistrano, California). A central white hub surrounded by radiating brown streaks was observed (Figure 2). On skin biopsy, the epidermis showed moderate compact and lamellated orthohyperkeratosis. Amorphous deposits of amyloid were observed in the dermal papillae, along with melanophages (Figure 3). Perivascular superficial sparse infiltration of melanophages was observed. This confirmed the diagnosis of macular amyloidosis. The patient was also incidentally diagnosed with diabetes mellitus Type 2 and hypertension during his workup. His fasting blood sugar was 199mg/dL and hemoglobin A1c was 8.2. The results of other investigations, including complete blood count, thyroid profile, liver and renal function tests, urinalysis, and chest x-ray, were within the normal limits. Human immunodeficiency virus, hepatitis B, and hepatitis C were non-reactive. A B S T R A C T Neurodegenerative disorders such as Alzheimer's disease and localized cutaneous macular amyloidosis are conditions that result from protein misfolding. These disorders share common pathogenic mechanisms that lead to the deposition of amyloid protein. Currently, there is a paucity of data on the connection between the brain and skin amyloidosis. Few recent studies have demonstrated a strong connection between the brain and skin in different amyloid diseases. Here, we report a case of concurrent occurrence of skin and brain amyloidoses and explore the brain-skin axis connection. KEYWORDS: Macular amyloidosis, Alzheimer's disease, brain-skin axis Association of Cutaneous Amyloidosis with Neurodegenerative Amyloidosis: Correlation or Coincidence? by GUNEET AWAL, MD, MBBS, and SIMPLEPREET KAUR, MD, MBBS Drs. Awal and Kaur are with the Department of Dermatology, Venereology & Leprosy, Sri Guru Ram Das Institute of Medical Sciences and Research in Amritsar, India. J Clin Aesthet Dermatol. 2018;11(4):25–27 FUNDING: No funding was provided for this article. DISCLOSURES: The authors have no conflicts of interest relevant to the content of this article. CORRESPONDENCE: Guneet Awal, MD, MBBS; Email:

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