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Cafe-Au-Lait Macule

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141. Mental Retardation (Overview)

: Children with disabilities and ID are more likely than other children to have visual impairment and hearing deficits Skin: Findings can include hyperpigmented and hypopigmented macules, such as café-au-lait macules (associated with neurofibromatosis type 1), as well as ash-leaf spots (associated with tuberous sclerosis), fibromas, and irregular pigmentation patterns Extremities: Although ID with multiple congenital anomalies and major malformations accounts for only 5-10% of all cases, most

2014 eMedicine.com

142. Movement Disorders in Individuals with Developmental Disabilities (Overview)

movements, such as dystonia or athetosis. Sensory: Children with disabilities and ID are more likely than other children to have visual impairment and hearing deficits Skin: Findings can include hyperpigmented and hypopigmented macules, such as café-au-lait macules (associated with neurofibromatosis type 1), as well as ash-leaf spots (associated with tuberous sclerosis), fibromas, and irregular pigmentation patterns Extremities: Although ID with multiple congenital anomalies and major malformations

2014 eMedicine.com

143. Piebaldism (Overview)

, Romano I, Persechino S. A case of piebaldism in a two-year-old female infant. G Ital Dermatol Venereol . 2016 Apr. 107 (2):208-9. . Duarte AF, Mota A, Baudrier T, Morais P, Santos A, Cerqueira R, et al. Piebaldism and neurofibromatosis type 1: family report. Dermatol Online J . 2010 Jan 15. 16(1):11. . Spritz R. Letter: Misdiagnosis of "neurofibromatosis" in patients with piebaldism. Dermatol Online J . 2011 Nov 15. 17(11):13. . Stevens CA, Chiang PW, Messiaen LM. Café-au-lait macules (...) with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis. Eur J Dermatol . 2018 Feb 1. 28 (1):119-120. . Njoo MD, Nieuweboer-Krobotova L, Westerhof W. Repigmentation of leucodermic defects in piebaldism by dermabrasion and thin split-thickness skin grafting in combination with minigrafting. Br J Dermatol . 1998 Nov. 139(5):829-33. . Garg T, Khaitan BK, Manchanda Y. Autologous punch grafting for repigmentation in piebaldism. J Dermatol . 2003 Nov. 30

2014 eMedicine.com

145. Nevus Anemicus (Overview)

occurring in the setting of neurofibromatosis type 1 describes equal frequency in females and males. [ ] Age Nevus anemicus may be present at birth or first appreciated in early childhood. Previous Next: Prognosis The prognosis of nevus anemicus is excellent. Lesions of nevus anemicus usually persist unchanged throughout life. They are asymptomatic. However, nevus anemicus presenting in a child with multiple café-au-lait macules should raise concern for neurofibromatosis type 1. Two prospective studies (...) : Loretta S Davis, MD; Chief Editor: William D James, MD Share Email Print Feedback Close Sections Sections Nevus Anemicus Overview Background Nevus anemicus is a congenital vascular anomaly that presents clinically as a hypopigmented macule or patch, as shown below. The lesional pallor is due to a localized hypersensitivity to catecholamines with resultant vasoconstriction. Nevus anemicus is an uncommon disorder and was first described by Vorner in 1906. Irregularly shaped, well-demarcated

2014 eMedicine.com

146. Neurological History and Physical Examination (Overview)

dorsal root ganglia. Coffee-brown pigmented (ie, caf é; au lait) spots of varying sizes, usually greater than 1.5 cm in diameter, and axillary freckling are seen in neurofibromatosis. These are observed in addition to or in the absence of the characteristic blubbery subcutaneous tumors that give the condition its name. See the image below. Axillary freckling as seen in neurofibromatosis. Tufts of hair (satyr's tail), dimples, and large moles along the spine may indicate spina bifida occulta (...) . If the examiner can hear the sound after the patient has stopped hearing it, then hearing loss is suspected. The vestibular portion of the nerve enters the brainstem along with the cochlear portion. It transmits information about linear and angular accelerations of the head from the utricle, saccule, and semicircular canals of the membranous labyrinth to the vestibular nucleus. Linear acceleration is monitored by the macules in the utricles and saccules; angular acceleration is monitored by the cristae

2014 eMedicine.com

147. Neurofibromatosis, Type 1 (Overview)

of at least 2 of 7 criteria to confirm the presence of NF1. Many of these signs do not appear until later childhood or adolescence; thus, confirming the diagnosis often is delayed despite a suspicion of NF1. The 7 clinical criteria used to diagnose NF1 are as follows, in the absence of alternative diagnoses: Six or more café-au-lait spots or hyperpigmented macules greater than 5 mm in diameter in prepubertal children and greater than 15 mm postpubertal Axillary or inguinal freckles (>2 freckles) Two (...) , Liu, GT, Gutmann DH. Optic pathway gliomas in neurofibromatosis-1: Controversies and recommendations. Ann Neurol . 2007. 61:189-98. . Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet . 2009 Jul. 46(7):431-7. . Shah KN. The diagnostic and clinical significance of café-au-lait macules. Pediatr Clin North Am . 2010. 57:1131-53. . Karagiannis

2014 eMedicine.com

148. Neurofibromatosis (Overview)

known as von Recklinghausen neurofibromatosis, which is the most common subtype and is referred to as peripheral neurofibromatosis, and , which is referred to as central neurofibromatosis. These descriptions are not especially accurate, because type 1 neurofibromatosis often has central features. This article will examine the dermatologic manifestations of type 1 neurofibromatosis. Next: Presentation Neurofibromatosis is often diagnosed because of unusual pigmentary patterns. Café au lait macules (...) —irregularly shaped, evenly pigmented, brown macules—are often present at birth, but they increase in number during the first few years of life. [ ] Neurofibromas form in late adolescence, most commonly in the skin. Patients may report cutaneous discoloration or disfigurement or more serious physical symptoms (eg, pain caused by neurofibromas, pathologic fractures, hypertensive headaches due to pheochromocytoma). Café au lait spots Most individuals with neurofibromatosis have 6 or more café au lait spots

2014 eMedicine.com

149. McCune-Albright Syndrome (Diagnosis)

puberty caused by this condition is far more common in girls than in boys. In girls, it is the result of estrogen excess from ovarian follicular cysts. [ ] Because the sexual precocity associated with MAS is gonadotropin-independent, it is more accurately described as pseudoprecocious puberty. The café-au-lait spots in MAS are large melanotic macules, sometimes referred to as café-au-lait macules (CALMs). Except for hyperpigmentation of the basal layer, no abnormal pathology is seen. Fewer than 10 (...) in McCune-Albright syndrome. Note the asymmetrical affectation, with near-total obliteration of various neural foramina at the base of the skull. This degree of fibrous dysplasia can result in multiple cranial nerve compression neuropathies, of which blindness and deafness (from involvement of cranial nerves II and VIII) are among the most disabling. Café au lait spot. This is a fairly large, irregular-edged ("coast-of-Maine" variety) lesion. It presents as a brownish, otherwise-asymptomatic macule

2014 eMedicine Pediatrics

150. Chromosomal Breakage Syndromes (Diagnosis)

by the chromosomal abnormalities that lead to increased homozygosity of daughter cells. Individuals have a dolichocephalic and microcephalic head shape, hypertrichosis, cheilitis, small narrow facies with telangiectasias, usually café-au-lait–colored macules in a butterfly pattern on the cheeks, although ears, forearms, and dorsal hands also may be involved. These telangiectasias vary in severity and are the result of hypersensitivity to sunlight, caused by a defective DNA helicase. Skin sensitivity to sunlight (...) diagnosed with Fanconi anemia before the appearance of hematologic manifestations (evidence of the difficulty in diagnosing Fanconi anemia). Although the average age of onset of hematologic symptoms is about 8 years, in some people, these symptoms do not appear until postadolescence. The pancytopenia, however, is usually progressive, and anemia is often a cause of death in the young. Hyperpigmentation and hypopigmentation of the skin or café-au-lait spots is also a common and useful clinical feature

2014 eMedicine Pediatrics

151. Chromosomal Breakage Syndromes (Follow-up)

by the chromosomal abnormalities that lead to increased homozygosity of daughter cells. Individuals have a dolichocephalic and microcephalic head shape, hypertrichosis, cheilitis, small narrow facies with telangiectasias, usually café-au-lait–colored macules in a butterfly pattern on the cheeks, although ears, forearms, and dorsal hands also may be involved. These telangiectasias vary in severity and are the result of hypersensitivity to sunlight, caused by a defective DNA helicase. Skin sensitivity to sunlight (...) diagnosed with Fanconi anemia before the appearance of hematologic manifestations (evidence of the difficulty in diagnosing Fanconi anemia). Although the average age of onset of hematologic symptoms is about 8 years, in some people, these symptoms do not appear until postadolescence. The pancytopenia, however, is usually progressive, and anemia is often a cause of death in the young. Hyperpigmentation and hypopigmentation of the skin or café-au-lait spots is also a common and useful clinical feature

2014 eMedicine Pediatrics

152. Nevus Anemicus (Diagnosis)

occurring in the setting of neurofibromatosis type 1 describes equal frequency in females and males. [ ] Age Nevus anemicus may be present at birth or first appreciated in early childhood. Previous Next: Prognosis The prognosis of nevus anemicus is excellent. Lesions of nevus anemicus usually persist unchanged throughout life. They are asymptomatic. However, nevus anemicus presenting in a child with multiple café-au-lait macules should raise concern for neurofibromatosis type 1. Two prospective studies (...) : Loretta S Davis, MD; Chief Editor: William D James, MD Share Email Print Feedback Close Sections Sections Nevus Anemicus Overview Background Nevus anemicus is a congenital vascular anomaly that presents clinically as a hypopigmented macule or patch, as shown below. The lesional pallor is due to a localized hypersensitivity to catecholamines with resultant vasoconstriction. Nevus anemicus is an uncommon disorder and was first described by Vorner in 1906. Irregularly shaped, well-demarcated

2014 eMedicine.com

154. Neurological History and Physical Examination (Diagnosis)

dorsal root ganglia. Coffee-brown pigmented (ie, caf é; au lait) spots of varying sizes, usually greater than 1.5 cm in diameter, and axillary freckling are seen in neurofibromatosis. These are observed in addition to or in the absence of the characteristic blubbery subcutaneous tumors that give the condition its name. See the image below. Axillary freckling as seen in neurofibromatosis. Tufts of hair (satyr's tail), dimples, and large moles along the spine may indicate spina bifida occulta (...) . If the examiner can hear the sound after the patient has stopped hearing it, then hearing loss is suspected. The vestibular portion of the nerve enters the brainstem along with the cochlear portion. It transmits information about linear and angular accelerations of the head from the utricle, saccule, and semicircular canals of the membranous labyrinth to the vestibular nucleus. Linear acceleration is monitored by the macules in the utricles and saccules; angular acceleration is monitored by the cristae

2014 eMedicine.com

155. Neurofibromatosis, Type 1 (Diagnosis)

of at least 2 of 7 criteria to confirm the presence of NF1. Many of these signs do not appear until later childhood or adolescence; thus, confirming the diagnosis often is delayed despite a suspicion of NF1. The 7 clinical criteria used to diagnose NF1 are as follows, in the absence of alternative diagnoses: Six or more café-au-lait spots or hyperpigmented macules greater than 5 mm in diameter in prepubertal children and greater than 15 mm postpubertal Axillary or inguinal freckles (>2 freckles) Two (...) , Liu, GT, Gutmann DH. Optic pathway gliomas in neurofibromatosis-1: Controversies and recommendations. Ann Neurol . 2007. 61:189-98. . Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet . 2009 Jul. 46(7):431-7. . Shah KN. The diagnostic and clinical significance of café-au-lait macules. Pediatr Clin North Am . 2010. 57:1131-53. . Karagiannis

2014 eMedicine.com

156. Neurofibromatosis (Diagnosis)

known as von Recklinghausen neurofibromatosis, which is the most common subtype and is referred to as peripheral neurofibromatosis, and , which is referred to as central neurofibromatosis. These descriptions are not especially accurate, because type 1 neurofibromatosis often has central features. This article will examine the dermatologic manifestations of type 1 neurofibromatosis. Next: Presentation Neurofibromatosis is often diagnosed because of unusual pigmentary patterns. Café au lait macules (...) —irregularly shaped, evenly pigmented, brown macules—are often present at birth, but they increase in number during the first few years of life. [ ] Neurofibromas form in late adolescence, most commonly in the skin. Patients may report cutaneous discoloration or disfigurement or more serious physical symptoms (eg, pain caused by neurofibromas, pathologic fractures, hypertensive headaches due to pheochromocytoma). Café au lait spots Most individuals with neurofibromatosis have 6 or more café au lait spots

2014 eMedicine.com

157. Neurofibromatosis Type 1

of the following signs are found: Six or more café au lait macules larger than 5 mm in the greatest diameter in prepubertal children and larger than 1.5 cm in postpubertal individuals Two or more neurofibromas of any type or 1 plexiform neurofibroma Multiple freckles (Crowe sign) in the axillary or inguinal region A distinctive osseous lesion, such as sphenoid dysplasia or thinning of long bone cortex, with or without pseudoarthrosis Optic glioma Two or more iris hamartomas (Lisch nodules) seen on slitlamp (...) or biomicroscopy examination A first-degree relative (parent, sibling, offspring) with NF1, as diagnosed by using the above criteria. However, the NIH criteria are often insufficient for diagnosis of NF1 in young children who have multiple café au lait spots, no other NF1 features, and no family history of NF1. The overwhelming majority of these children later are diagnosed with NF1 because many of the features are rare in infancy but increase in frequency with age. Preferred examination The preferred

2014 eMedicine Radiology

158. Psoriasis (Overview)

psoriasis: Psoriasis that occurs within a dermatome Examination in patients with psoriasis includes the following: Dermatologic: Most commonly, scaling erythematous macules, papules, and plaques; area of skin involvement varies with the form of psoriasis Ocular: Ectropion and trichiasis, conjunctivitis and conjunctival hyperemia, and corneal dryness with punctate keratitis and corneal melt [ ] ; blepharitis Musculoskeletal: Stiffness, pain, throbbing, swelling, or tenderness of the joints; distal joints (...) , Paolino G, Aprea Y, et al. Safety and efficacy of anti-tumor necrosis factors α in patients with psoriasis and chronic hepatitis C. World J Clin Cases . 2016 Feb 16. 4 (2):49-55. . Komrokji RS, Kulasekararaj A, Al Ali NH, Kordasti S, Bart-Smith E, Craig BM, et al. Autoimmune Diseases and Myelodysplastic Syndromes. Am J Hematol . 2016 Feb 13. . Sorensen EP, Algzlan H, Au SC, Garber C, Fanucci K, Nguyen MB, et al. Lower Socioeconomic Status is Associated With Decreased Therapeutic Response

2014 eMedicine Emergency Medicine

159. Skin, Benign Skin Lesions

, follow: Blister - Nonspecific term for fluid-filled lesion (see vesicle or bulla) Bulla - Fluid-filled lesion >5 mm in greatest dimension Erosion* - Loss of epidermis Excoriation - Lesion of traumatic nature with epidermal loss in a generally linear shape Lichenification * - Grossly thickened, leathery, hyperpigmented skin with hyperkeratosis and deep, widely-spaced skin markings Macule - Flat circumscribed area demarcated by color from surrounding tissue Nodule - Solid raised discrete lesion >5 mm (...) occur in areas in which sebaceous glands predominate; they occur primarily in the head and neck regions but can be present in any hair-bearing region of the body. They are usually small (2-10 mm in diameter), smooth surface lesions that occur usually as macules but also can have papular formations. They commonly are tan to reddish-brown to yellowish in color and occasionally contain central speckles. Infrequently, they can occur on the trunk or legs and have a polypoid appearance. Basal cell

2014 eMedicine Surgery

160. Skin, Congenital Hairy Nevi

of males and consists of a sharply but irregularly demarcated area demonstrating hyperpigmentation and hypertrichosis. [ ] Click for more information and for images. Café-au-lait macules: These flat, light brown surface lesions are associated with neurofibromas. [ ] Click to view an image of Café-au-lait macules. Congenital blue nevus: This lesion is a small, well circumscribed, dome-shaped nodule of slate blue or bluish-black color. [ ] See Medscape Reference article for more information (...) is a light brown patch or band that is present since birth. In childhood, it becomes dotted with small dark brown macules. [ ] Click to view an image of nevus spilus. Pigmented epidermal nevi: This condition is characterized by a persistent linear, pruritic lesion composed of red, scaling, verrucous papules arranged in one or several lines. [ ] Click to view an image of pigmented epidermal nevi. Previous Next: Management and Treatment Management Two factors influence the treatment of congenital

2014 eMedicine Surgery

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