TABLE 1.

Literature review of melanocytic lesions in patients with ring chromosome 7 syndrome

Article	Patient demographics	Cutaneous phenotype	Skin lesions, histology	Non-cutaneous phenotype	Cytogenetics
Salas-Labadia et al. Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7. Am J Med Genet A. 2014 (PMID: 24677512)	7 months – 6 years M	Congenital nevi, nevus flammeus, café-au-lait spots, hypo/hyper pigmented spots following the lines of Blaschko (face, dorsum and limbs)	NA	Dysmorphic features, developmental delay, hypogenitalism, lumbar dextroscoliosis, cerebellar and ophtalmological abnormalities.	46, XY, r(7)(p22.3q36.1) 0.8 Mb deletion in 7p22.3, and a 7.5 Mb deletion in 7q36.1 arr 7p22.3(113,336-954,145)x1,7q36.1q36.3(151306863-158812247)x1, (Human Genome Build, hg18))
Kaur et al. Ring chromosome 7 in an Indian woman. J Intellect Dev Disabil. 2008 (PMID 18300171)	25F	Dark pigmented nevi (abdomen, thorax and thigh). Café-au-lait spots.	NA	Facial dysmorphism, upward slanting palpebral fissures, broad nose, large lips, short neck, widely spaced nipples, puffy hands and feet, short stature. Speech delay, microcephaly.	46,XX, r(7)
Mehraein et al. Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient. Am J Med Genet A 2004 (PMID 15523614)	14M	Nevus flammeus of the forehead and back, multiple small flat congenital melanocytic nevi (one of which had rapidly grown, measured 2.5 in greatest diameter)	Surgical excision of the largest nevus: compound melanocytic congenital nevus	Failure to thrive, microcephaly, seizures. Dysmorphic features: short neck, deep set ears, short palpebral fissures, arched palate, klinodaktyly.	46,XY,r(7)(p22q36) Loss, gain or duplication of the ring chromosome in 15.4% of lymphocytes. In the nevus, gain of chromosome 6 in 36.8% of cells.
Rodriguez et al. Ring chromosome 7 and sacral agenesis. (PMID 10982483)	19 month F	Nevus flammeus (forehead), multiple nevi (head, labia majora, abdomen, lower limbs), café-au-lait spots (head and back of lower limbs).	NA	Microcephaly, hypotelorism, sacral agenesis.	46, XX, r(7)
Ceballos-Quintal et al. Severe congenital hypoacusia in a a patient with mosaic ring chromosome 7. Rev Biomed 1999 (PMID: not indexed)	8M	Capillary hemangiomas (forehead, occiput, neck). Café-au-lait spots (clavicular region, thorax, abdomen, arms and hands). Dark pigmented nevi (hand and back). Hypopigmented spots (legs).	NA	Microcephaly, psychomotor delay, failure to thrive, upslanting palpebral fissures, broad nasal base, short neck, syndactyly. Hypoacusia.	46, XY, r(7) (p22.2q36.3)
Wahlstrom et al. Boy with a ring 7 chromosome: a case report with special reference to dermatological findings. Acta Paediatric. 1996 (PMID 8922097)	8M	Café-au-lait spots and multiple heavily pigmented nevi, most of which were clinically considered “dysplastic”	Histopathology showed “pigmented nevi with pronounced dysplasia”. No signs of melanoma in situ. Melanocytes were “heavily pigmented”. One lesion showed large cells that “confluence to syncytia-like giant cells”.	Short stature, facial dysmorphism. Normal psycho-motor development.	46, XY, r(7)(p22.3q36.3)
Vollenweider et al. Cutaneous findings in ring chromosome 7 syndrome. Dermatology, 1993. (PMID 8428052)	9 cases. 3 days-17 years. 7/9: M 2/9: F	7/9 had vascular lesions (nevus flammeus, hemangiomas). 3 had café-au-lait spots. 5 showed large pigmented congenital nevi.	NA	Skeletal anomalies, short stature, microcephaly, ocular and genital anomalies.	NA
Vollenweider et al. Melanoma associated with ring chromosome 7. Dermatology. 1993. (PMID: 8428043)	17F	Multiple pigmented congenital nevi. Disseminated nevi (largest 5.5 cm in diameter, clinical photograph available). Largest nevi on the thigh, knee and calf. At 17 years of age, presented with itching of a right retroauricular pigmented lesion.	Seven excised nevi, shown to be compound melanocytic nevi. At 17 years of age, the retroauricular lesion was biopsied and showed melanoma (Breslow 1.8mm), composed of “pigmented epithelioid-type cells invading the epidermis and reticular dermis”. Satellite cutaneous metastases found. No recurrence at 24 months after follow-up nor nodal metastases.	None.	46, XX, r(7)
Biesecker et al. Severe anomalies associated with ring chromosome 7, Am J Med Genet, 1991. (PMID 1746606)	3 day M	Capillary hemangiomas (forehead, occiput, back and neck), darkly pigmented congenital nevus (thigh)	NA	Polyasplenia, intrauterine growth retardation, wide palpebral fissures, short ears, heart murmur, unilateral hydrocele.	46, XY, r(7)(p22q36)
Caramia et al. Ring chromosome 7: report of the fifth case. Eur J Pediatr. 1990 (PMID 2189730)	13M	Multiple pigmented nevi. Hypopigmented spots. Several capillary hemangiomas.	NA	Growth failure, microcephaly, clinodactyly	46, XY, r(7)(p22q36)
Koiffmann et al. Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation. J Med Genetics. 1990 (PMID: 2395166)	39M	Hemangiomas (forehead, neck). Pigmented nevi (back and abdomen).	NA	Microcephaly, short palpebral fissures, inguinal hernia, hypospadias. Growth and developmental delay. Short stature.	46, XY, r(7)
DeLozier-Blanchet and Guenin. Cytogenetics of ring chromosome 7, Clin Genet 1984. PMID (6705244) AND DeLozier et al. A fourth case of ring chromosome 7, Clin Genet, 1982 (PMID 7172483)	8F	Numerous pigmented congenital nevi on all parts of the body (0.3–1.0cm). Also, three large verrucous and pigmented nevi on the lower limbs (largest 5.5 cm in diameter), firm on palpation. Cutis marmorata (abdomen and thighs). Nevus flammeus (vertex)	Biopsy showed “typical congenital nevi”	Short stature dysmorphic features (round face, arched palate, wide-spaced nipples and short 4th metacarpals).	46, XX, r(7)