Iris Mammillations as the Only Sign of Ocular Melanocytosis in a Child With Choroidal Melanoma

Iris mammillations in a pair of twins with Cowden syndrome

“… 5 , 6 Iris mammillations with coexistent ocular melanocytosis is a precancerous condition associated with an increased incidence of intraocular melanoma. 2 , 5 PTEN -deficient melanocytes were found to be larger in mouse models, 7 and reduced nuclear PTEN expression in human acquired melanocytic nevi has been established 8 ; we speculate that PTEN mutation may have played a role in iris mammillations development in our patients.…”

“…Iris mammillation is a congenital anomaly consisting of multiple dark brown, mound-shaped excrescences arising from the anterior surface of the iris. 1 , 2 , 4 , 5 In contrast to Lisch nodules, which are an important differential diagnosis, iris mammillations uniformly appear on the iris surface and do not differ significantly in pigmentation from the surrounding iris tissue. Histologically, the latter represent spindle-shaped nevoid melanocytes, usually interspersing pigmented iris stroma.…”

“…Histologically, the latter represent spindle-shaped nevoid melanocytes, usually interspersing pigmented iris stroma. 2 , 5 Iris mammillations may be unilateral or bilateral, familial or sporadic, and found either as an isolated finding or in association with ocular and extraocular diseases, such as phakomatosis pigmentovascularis type IIb, neurofibromatosis, and congenital adrenal hyperplasia. 5 , 6 Iris mammillations with coexistent ocular melanocytosis is a precancerous condition associated with an increased incidence of intraocular melanoma.…”

Iris mammillations in a pair of twins with Cowden syndrome

“… 5 , 6 Iris mammillations with coexistent ocular melanocytosis is a precancerous condition associated with an increased incidence of intraocular melanoma. 2 , 5 PTEN -deficient melanocytes were found to be larger in mouse models, 7 and reduced nuclear PTEN expression in human acquired melanocytic nevi has been established 8 ; we speculate that PTEN mutation may have played a role in iris mammillations development in our patients.…”

“…Iris mammillation is a congenital anomaly consisting of multiple dark brown, mound-shaped excrescences arising from the anterior surface of the iris. 1 , 2 , 4 , 5 In contrast to Lisch nodules, which are an important differential diagnosis, iris mammillations uniformly appear on the iris surface and do not differ significantly in pigmentation from the surrounding iris tissue. Histologically, the latter represent spindle-shaped nevoid melanocytes, usually interspersing pigmented iris stroma.…”

“…Histologically, the latter represent spindle-shaped nevoid melanocytes, usually interspersing pigmented iris stroma. 2 , 5 Iris mammillations may be unilateral or bilateral, familial or sporadic, and found either as an isolated finding or in association with ocular and extraocular diseases, such as phakomatosis pigmentovascularis type IIb, neurofibromatosis, and congenital adrenal hyperplasia. 5 , 6 Iris mammillations with coexistent ocular melanocytosis is a precancerous condition associated with an increased incidence of intraocular melanoma.…”

A Pigmented Iris Lesion

“…In contrast, only 4.6% of iris nevi grow by 5 years (usually associated with malignant transformation) . The presence of mammillations and pigment granule seeds also helps to distinguish the two . For both iris nevus and melanocytoma, the correct management would be observation (choice A).…”

“…6 The presence of mammillations and pigment granule seeds also helps to distinguish the two. 8 For both iris nevus and melanocytoma, the correct management would be observation (choice A). Monitoring is required because complications of melanocytoma may include spontaneous necrosis with resultant pigment dispersion causing melanocytomalytic glaucoma and anterior chamber angle invasion, even in the absence of malignant transformation.…”

Iris mammillations in a pair of twins with Cowden syndrome

“… 5 , 6 Iris mammillations with coexistent ocular melanocytosis is a precancerous condition associated with an increased incidence of intraocular melanoma. 2 , 5 PTEN -deficient melanocytes were found to be larger in mouse models, 7 and reduced nuclear PTEN expression in human acquired melanocytic nevi has been established 8 ; we speculate that PTEN mutation may have played a role in iris mammillations development in our patients.…”

“…Iris mammillation is a congenital anomaly consisting of multiple dark brown, mound-shaped excrescences arising from the anterior surface of the iris. 1 , 2 , 4 , 5 In contrast to Lisch nodules, which are an important differential diagnosis, iris mammillations uniformly appear on the iris surface and do not differ significantly in pigmentation from the surrounding iris tissue. Histologically, the latter represent spindle-shaped nevoid melanocytes, usually interspersing pigmented iris stroma.…”

“…Histologically, the latter represent spindle-shaped nevoid melanocytes, usually interspersing pigmented iris stroma. 2 , 5 Iris mammillations may be unilateral or bilateral, familial or sporadic, and found either as an isolated finding or in association with ocular and extraocular diseases, such as phakomatosis pigmentovascularis type IIb, neurofibromatosis, and congenital adrenal hyperplasia. 5 , 6 Iris mammillations with coexistent ocular melanocytosis is a precancerous condition associated with an increased incidence of intraocular melanoma.…”

A Pigmented Iris Lesion

“…In contrast, only 4.6% of iris nevi grow by 5 years (usually associated with malignant transformation) . The presence of mammillations and pigment granule seeds also helps to distinguish the two . For both iris nevus and melanocytoma, the correct management would be observation (choice A).…”

“…6 The presence of mammillations and pigment granule seeds also helps to distinguish the two. 8 For both iris nevus and melanocytoma, the correct management would be observation (choice A). Monitoring is required because complications of melanocytoma may include spontaneous necrosis with resultant pigment dispersion causing melanocytomalytic glaucoma and anterior chamber angle invasion, even in the absence of malignant transformation.…”

Iris mammillations in a pair of twins with Cowden syndrome

“… 5 , 6 Iris mammillations with coexistent ocular melanocytosis is a precancerous condition associated with an increased incidence of intraocular melanoma. 2 , 5 PTEN -deficient melanocytes were found to be larger in mouse models, 7 and reduced nuclear PTEN expression in human acquired melanocytic nevi has been established 8 ; we speculate that PTEN mutation may have played a role in iris mammillations development in our patients.…”

“…Iris mammillation is a congenital anomaly consisting of multiple dark brown, mound-shaped excrescences arising from the anterior surface of the iris. 1 , 2 , 4 , 5 In contrast to Lisch nodules, which are an important differential diagnosis, iris mammillations uniformly appear on the iris surface and do not differ significantly in pigmentation from the surrounding iris tissue. Histologically, the latter represent spindle-shaped nevoid melanocytes, usually interspersing pigmented iris stroma.…”

“…Histologically, the latter represent spindle-shaped nevoid melanocytes, usually interspersing pigmented iris stroma. 2 , 5 Iris mammillations may be unilateral or bilateral, familial or sporadic, and found either as an isolated finding or in association with ocular and extraocular diseases, such as phakomatosis pigmentovascularis type IIb, neurofibromatosis, and congenital adrenal hyperplasia. 5 , 6 Iris mammillations with coexistent ocular melanocytosis is a precancerous condition associated with an increased incidence of intraocular melanoma.…”

A Pigmented Iris Lesion

“…In contrast, only 4.6% of iris nevi grow by 5 years (usually associated with malignant transformation) . The presence of mammillations and pigment granule seeds also helps to distinguish the two . For both iris nevus and melanocytoma, the correct management would be observation (choice A).…”

“…6 The presence of mammillations and pigment granule seeds also helps to distinguish the two. 8 For both iris nevus and melanocytoma, the correct management would be observation (choice A). Monitoring is required because complications of melanocytoma may include spontaneous necrosis with resultant pigment dispersion causing melanocytomalytic glaucoma and anterior chamber angle invasion, even in the absence of malignant transformation.…”