Ch 61

Nörofibromatoz ve Tuberoz Skleroz Kompleksi

Vol 1 · sayfa 992 · §9

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Fig. 61.3 Café-au-lait macules and “freckling”. Oval-shaped, light- to medium-brown patches with regular borders and uniform pigmentation (A–C). Numerous 1–3 mm lentigines are most commonly found in the axillae (Crowe’s sign) (B) but can also develop in other locations such as the chest (C) and perioral region (D). A–D, Courtesy Julie V. Schaffer, MD.

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Fig. 61.3 Café-au-lait macules and “freckling”. Oval-shaped, light- to medium-brown patches with regular borders and uniform pigmentation (A–C). Numerous 1–3 mm lentigines are most commonly found in the axillae (Crowe’s sign) (B) but can also develop in other locations such as the chest (C) and perioral region (D). A–D, Courtesy Julie V. Schaffer, MD.

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Fig. 61.4 Multiple cutaneous neurofibromas. Soft, skin-colored to pinkish-tan, dome-shaped or polypoid, well-demarcated papules and nodules of various sizes (A–C) can occur in patients with NF1. Neurofibromas may be superim- posed on café-au-lait macules and lentigines (B, C). A,B, Courtesy Julie V. Schaffer, MD.

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Fig. 61.4 Multiple cutaneous neurofibromas. Soft, skin-colored to pinkish-tan, dome-shaped or polypoid, well-demarcated papules and nodules of various sizes (A–C) can occur in patients with NF1. Neurofibromas may be superim- posed on café-au-lait macules and lentigines (B, C). A,B, Courtesy Julie V. Schaffer, MD.

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Fig. 61.5 Spectrum of cutaneous neuro fibromas. Lesions range from subtle blue–red macules (A) to exophytic nodules with associated hypertrichosis (B). Courtesy Julie V. Schaffer, MD.

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Fig. 61.6 Plexiform neurofibromas. Clinical presentations include: hyperpigmented plaques that may be misdiag- nosed as a café-au-lait macule (if not palpated) (A) or congenital melanocytic nevus (B); and a poorly circum- scribed, sagging pink mass (C). A, Courtesy Antonio Torrelo, MD; B,C, Courtesy Julie V. Schaffer, MD.

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Fig. 61.7 Lisch nodules. Multiple yellow–brown papules on the iris. Although best seen using a slit lamp, Lisch nodules may also be evident on clinical exami- nation in patients with lightly pigmented eyes. Courtesy Julie V. Schaffer, MD.

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Fig. 61.8 Mosaic neurofibromatosis type 1 (NF1). A Mosaic NF1 results from a heterozygous postzygotic NF1 mutation (e.g. the deletion depicted here), which can affect one or more regions of skin. Within such areas, somatic “second-hit” mutations that inactivate the remaining NF1 allele result in skin lesions such as café-au-lait macules, lentigines, and neurofibromas. B A cluster of soft, pink to pink–brown papules limited to the thigh. There were no associated café-au- lait macules. C Multiple small café-au-lait macules and “freckling” limited to the left side of the trunk and groin, with slight extension past the midline. A, Courtesy Jean L. Bolognia, MD; B, Courtesy Antonio Torrelo, MD.

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Fig. 61.9 Development of clinical features in neurofibromatosis type 1. The time course of major diagnostic lesions that develop in NF1. During the first few years of life, a child may have only café-au- lait macules. Adapted from DeBella K, Szudek J, Friedman JM. Use of the National Institutes of Health criteria for diagnosis of neuro fibromatosis 1 in children. Pediatrics 2000;105:608–14.

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Fig. 61.11 Entities in the differential diagnosis of neurofibroma- tosis type 1. A Grouped café- au-lait macules and lentigines in a 6-year-old boy with constitu- tional mismatch repair deficiency. B A cutaneous schwannoma with hypertrichosis and slight hyper- pigmentation in a 2-year-old boy with neurofibro- matosis type 2; such lesions may be misdiagnosed as a congenital melanocytic nevus or smooth muscle hamartoma. Courtesy Julie V. Schaffer, MD.

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Fig. 61.14 Hypomelanotic macules in tuberous sclerosis complex. Lance- ovate and oval hypomelanotic (ash leaf) macules. Courtesy Julie V. Schaffer, MD.

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Fig. 61.15 Guttate leukoderma of tuberous sclerosis complex. Multiple 1–2 mm hypopigmented “confetti” macules. Courtesy Jean L. Bolognia, MD.

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Fig. 61.16 Facial angio- fibromas and fibrous plaque in tuberous sclerosis complex. A Multiple small, dome- shaped pink–tan papules and a fibrous cephalic plaque on the cheeks of a 5-year-old boy. B Larger, coalescing dome-shaped, pink– tan papules on the cheeks and nose of an adolescent. C Fibrous plaque on the forehead, which represents the most common location. A,B, Courtesy Julie V. Schaffer, MD; C, Courtesy Ángela Hernández-Martín, MD.

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Fig. 61.16 Facial angio- fibromas and fibrous plaque in tuberous sclerosis complex. A Multiple small, dome- shaped pink–tan papules and a fibrous cephalic plaque on the cheeks of a 5-year-old boy. B Larger, coalescing dome-shaped, pink– tan papules on the cheeks and nose of an adolescent. C Fibrous plaque on the forehead, which represents the most common location. A,B, Courtesy Julie V. Schaffer, MD; C, Courtesy Ángela Hernández-Martín, MD.

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Fig. 61.17 Collagenomas in tuberous sclerosis complex. A Shagreen patches are actually plaques, which can be hyperpigmented or skin-colored. The surface is said to resemble leather or pigskin. B The “folliculocystic and collagen hamartoma” features comedones and keratin-filled cysts as well as collagen deposition. A, Courtesy Julie V. Schaffer, MD; B, Courtesy Antonio Torrelo, MD.

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Fig. 61.17 Collagenomas in tuberous sclerosis complex. A Shagreen patches are actually plaques, which can be hyperpigmented or skin-colored. The surface is said to resemble leather or pigskin. B The “folliculocystic and collagen hamartoma” features comedones and keratin-filled cysts as well as collagen deposition. A, Courtesy Julie V. Schaffer, MD; B, Courtesy Antonio Torrelo, MD.

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Fig. 61.17 Collagenomas in tuberous sclerosis complex. A Shagreen patches are actually plaques, which can be hyperpigmented or skin-colored. The surface is said to resemble leather or pigskin. B The “folliculocystic and collagen hamartoma” features comedones and keratin-filled cysts as well as collagen deposition. A, Courtesy Julie V. Schaffer, MD; B, Courtesy Antonio Torrelo, MD.

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Fig. 61.18 Ungual fibromas in tuberous sclerosis complex. A Multiple fibromas of the toes arising in a periungual location. Note the associated longitudinal grooves. B Longitudinal red streaks (“red comets”) that narrow proximally and favor the fingernails. A, Courtesy Julie V. Schaffer, MD; B, Courtesy Thomas Darling, MD.

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Fig. 61.18 Ungual fibromas in tuberous sclerosis complex. A Multiple fibromas of the toes arising in a periungual location. Note the associated longitudinal grooves. B Longitudinal red streaks (“red comets”) that narrow proximally and favor the fingernails. A, Courtesy Julie V. Schaffer, MD; B, Courtesy Thomas Darling, MD.

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Fig. 61.19 Retinal hamartomas of tuberous sclerosis complex. Courtesy Jean L. Bolognia, MD.

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Fig. 61.19 Retinal hamartomas of tuberous sclerosis complex. Courtesy Jean L. Bolognia, MD.

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