Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots

Abstract

It is essential to recognize that circularly grouped hypomelanotic spots are a benign condition. The location and arrangement of the hypomelanotic spots were atypical for congenital grouped albinotic spots of the retinal pigment epithelium (CGAS) as they were grouped within the macula in addition to a more characteristic linear "bear track" formation in the periphery. To the authors' knowledge, this is the first report of CGAS present in a patient with hemihypertrophy, café au lait spots, and cryptorchidism and may represent a novel syndromic association.

Congenital Partial Hemihypertrophy, Low Set Ears, Hypertelorism, and Epicanthi Folds: A Novel Syndromic Association

“…Congenital anomalies Walia et al (1971) [13] Congenital heart disease Paré and Elhilali (1972) [14] Hydrometrocolpos and polydactyly Eisenberg and Pfister (1972) [15] Indridason ; Thomas ;and Berkoben (1996) [25] Kusz et al (2019) [29] Medullary sponge kidney Henry et al (1973) [16] Abnormalities of the aortic arch; and of the skeletal; cutaneous and ocular systems. Temtamy and Rogers (1976) [17] Macrodactyly; and connective tissue nevi Fischer ;Strand ;and Shapiro (1984) [18] Abnormalities of the cerebral vasculature : giant aneurysm; capillary hemangioma; and arteriovenous malformation Hidano and Arai (1987) [19] Syndactyly ; scoliosis; short forth metacarpus; hypoplastic mandible; peroneal exostosis ;multiple faint nevi flammei ; telangiectasis; nevus anemicus ; fibromatous tumors of the tip of the tongue; mitral prolapse; and vascular; cerebral; abnormalities Agarwal et al (1988) [20] Giani ;Lapi ;Pezzati (1991) [21] Benign nephromegaly and duplex ureter Dawn et al (1995) [22] Nevus depigmentosus Sabry et al (1995) [23] Right upper limb triplication; polythelia; ; congenital hip dislocation; facial dysmorphism; congenital heart disease; and scoliosis Calzolari et al (1996) [24] Hemimegalencephaly Memon et al (2005) [26] Renal dysplasia and benign nephromegaly Akarsu et al (2005) [27] Congenital hemihypertrichosis White et al (2018) [28] Café au lait spots; left-sided cryptorchidism; and albinotic spots of the retinal pigment epithelium Mohanna and Sallam (2008) from Yemen reported a case presented with partial hemihypertrophy of the right leg and foot with polydactyly; a right sided abdomin...…”