Familial cutaneous amyloidosis with systemic manifestations in males

Abstract

We describe a family in which two males and seven females have brown pigmentation of the skin. In the females, the type and distribution of the pigmentation mimicked incontinentia pigmenti; in the males, the pattern was reticulate. The histological appearance was the same in both sexes with amyloid deposits in the papillary dermis, melanin in the basal layer, and slight hyperkeratosis. The females were otherwise normal. Both males had thrived poorly as infants but had survived. One had severe gastroenteritis with blood in the stools starting at the age of three weeks followed by seizures, hemiplegia, and developmental delay; the other had recurrent pneumonia throughout life, a urethral stricture, inguinal herniae, and near-blindness from amyloid deposition in the cornea. Five other males in the family had had severe illnesses. Two died of pneumonia by three months. One died at three months from colitis. Both remaining boys had colitis as infants, failed to thrive, and developed recurrent pneumonia from which one died at three years. We think all of these relatives had the same disease carried by a single gene with pleiotropic effects. The most likely form of inheritance is X-linked.

Unusual primary cutaneous amyloidosis with an incontinentia pigmenti‐like pattern

“…Macular amyloidosis usually presents as moderately pruritic, brownish macules and patches with a reticulate or rippled pattern on the upper back, chest, and limbs. The rare clinical presentations of diffuse macular amyloidosis include nevoid‐like hyperpigmentation, 2 widespread diffuse pigmentation, 3 poikiloderma‐like presentation, 4 and incontinentia pigmenti‐like pattern 5–8 . In this study, we report a case of unusually diffuse macular amyloidosis with an incontinentia pigmenti‐like pattern.…”

“…Partington et al. 8 reported another familial case with hereditary cutaneous amyloidosis. The affected women presented with pigmentation following Blaschko’s lines, which looked like incontinentia pigmenti.…”

Linear macular amyloidosis

“…5-9 Some of these cases had an additional feature of MA following Blaschko's lines. 10 Associated systemic manifestation such as developmental delay, recurrent pneumonia, and ulcerative colitis were observed in some patients. 5 Bourke et al described a case of extensive primary cutaneous amyloidosis exhibiting both macular and lichenoid lesions that were arranged in a distinctive whorled and linear pattern following Blaschko's lines over the back and upper limbs, as well as the more typical reticulate configuration over the thighs.…”

Keratoconus Associated With Corneal Stromal Amyloid Deposition Containing TGFBIp

“…More than 35 different pathogenic mutations have been identified in TGFBI , located in exons 4, 11, 12, 13 and 14 2, 3. In contrast, Meretoja’s syndrome, multiple myeloma, and familial cutaneous amyloidosis are associated with systemic amyloid deposition and are well-recognized causes of secondary corneal amyloidosis 4–6. Secondary corneal amyloid deposition has also been associated with localized causes such as trachoma, trichiasis, interstitial keratitis, phlyctenular keratitis, and uveitis 7–9.…”