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Ulerythema ophryogenes

In older children, topical retinoids or keratolytic agents, including urea, glycolic acid, ammonium lactate and salicylic acid, can be tried. Topical corticosteroids should be used only for short periods to alleviate pruritic symptoms in inflamed lesions. Keratosis pilaris variants When keratosis pilaris is associated with pronounced erythema, the term keratosis pilaris rubra is used.57 The redness is striking and overshadows the papular elements of the disorder. The facial distribution is often widespread, involving the lateral cheeks, eyebrows, chin and pinnae of the ears, giving a distinctly ruddy appearance. Extrafacial involvement may also be extensive, with involvement of the extensor surfaces of the arms, legs and often the chest, back, and buttocks (Fig. 25.13). No atrophy or hyperpigmentation is noted. While often having onset during infancy, keratosis pilaris rubra, unlike most other forms of keratosis pilaris, tends to persist into adolescence. Another keratosis pilaris variant is erythromelanosis follicularis faciei et colli.65 This entity is characterized by prominent well-demarcated, reddish-brown pigmentation, telangiectasia, and pale follicular papules localized to the lateral cheeks often extending to the neck. Generalized involvement is not seen with this form. Adolescent onset has been reported. Keratosis pilaris atrophicans is a group of follicular keratodermas considered a variant of keratosis pilaris. They are defined by hyperkeratotic follicular plugs with variable erythema associated with atrophic scarring. Ulerythema ophryogenes is a keratosis pilaris variant localized to the lateral eyebrows and associated with localized alopecia. It has onset in infancy and is observed more frequently in boys.66 The inheritance is either sporadic or autosomal dominant. Ulerythema ophryogenes is associated with Noonan syndrome and cardio-facial-cutaneous syndrome; as well as wooly hair, monosomy 18p, Cornelia de Lange syndrome and Rubinstein–Taybi syndrome.67–73 Atrophoderma vermiculatum is characterized early on by small, rough follicular papules with minimal erythema that progress to atrophic cribriform scars occurring on the cheeks, preauricular region and forehead. Unilateral involvement has been reported.74,75 Onset typically occurs later in childhood than other forms, generally after 5 years of age.76 Autosomal dominant and sporadic inheritance is suggested.76 Several genetic associations are noted with these variants and generalized keratosis pilaris, including IFAP (ichthyosis follicularis, atrichia, photophobia) syndrome and cardio-facialcutaneous syndrome (Figs. 25.14, 25.15). These are outlined in Table 25.2. [стр. 578 ⇒]

Down syndrome. Pediatr Dermatol 2007;24(3): 317–20. 64. Forman L. Keratosis pilaris. Br J Dermatol 1954; 66(8–9):279–82. 65. Andersen BL. Erythromelanosis follicularis faciei et colli. Case reports. Br J Dermatol 1980; 102(3):323–5. 66. Davenport DD. Ulerythema ophryogenes; review and report of a case. Discussion of relationship to certain other skin disorders and association with internal abnormalities. Arch Dermatol 1964;89:74–80. 67. Pierini DO, Pierini AM. Keratosis pilaris atrophicans faciei (ulerythema ophryogenes): a cutaneous marker in the Noonan syndrome. Br J Dermatol 1979;100(4):409–16. 68. Siegel DH, McKenzie J, Frieden IJ, et al. Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. Br J Dermatol 2011;164(3):521–9. 69. Armour CM, Allanson JE. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations. J Med Genet 2008;45(4):249–54. 70. Chien AJ, Valentine MC, Sybert VP. Hereditary woolly hair and keratosis pilaris. J Am Acad Dermatol 2006;54(2 Suppl):S35–9. 71. Florez A, Fernandez-Redondo V, Toribio J. Ulerythema ophryogenes in Cornelia de Lange syndrome. Pediatr Dermatol 2002;19(1):42–5. 72. Nazarenko SA, Ostroverkhova NV, Vasiljeva EO, et al. Keratosis pilaris and ulerythema ophryogenes associated with an 18p deletion caused by a Y/18 translocation. Am J Med Genet 1999; 85(2):179–82. 73. Gómez Centeno P, Rosón E, Peteiro C, et al. Rubinstein – Taybi syndrome and ulerythema ophryogenes in a 9-year-old boy. Pediatr Dermatol 1999;16(2):134–6. [стр. 585 ⇒]

BOX 29.4  CLINICAL FEATURES: NOONAN SYNDROME DERMATOLOGIC ASSOCIATIONS • Webbed neck • Cutis vertices gyrata • Ulerythema ophryogenes • Koilonychia • Thick, curly and wooly hair • Prominent fetal finger pads EXTRACUTANEOUS MANIFESTATIONS • Short stature • Craniofacial: • Ptosis • Downslanting palpebral fissures • High palate • Cardiac pulmonic stenosis • Cryptorchidism... [стр. 653 ⇒]

LEGUIS SYNDROME Legius syndrome (MIM #611431) was first recognized in 2007 as an NF-1-like syndrome in families with multiple café-au-lait macules, but negative NF-1 gene testing.10 The phenotype is milder than NF-1 and seems to lack the propensity for tumor development. The clinical features include a mild NF-like phenotype and 50% of these patients meet diagnostic criteria for NF-1. Of the diagnostic criteria for NF-1 (Box 29.1), the features that have been reported in Legius include >6 CALM >5 mm, intertriginous freckling, positive family history, macrocephaly, short stature and learning disabilities.11 Neurofibromas, plexiform neurofibromas, bone dysplasia and scoliosis have not been associated with Legius syndrome. Legius syndrome is caused by loss of function (LOF) mutations in the SPRED1 gene.10 Like neurofibromin, SPRED1 is a negative regulator of the RAS-MAPK pathway (Fig. 29.1).11 NOONAN SYNDROME Noonan syndrome (MIM #163950) is an autosomal dominant multisystem disorder characterized by congenital lymphedema, broad or webbed neck, low posterior hairline, short stature, and cardiac malformations (Box 29.4). Cutaneous findings The neonate with Noonan syndrome is unlikely to have skin manifestations other than nuchal webbing and peripheral lymphedema that suggest the diagnosis. Keratosis pilaris atrophicans faciei (ulerythema ophryogenes), characterized by horny, whitish, hemispherical, or acuminate papules at the opening of pilosebaceous follicles, is generally noted in older children, but may manifest in the external third of the eyebrows by a few months after birth. Some children with Noonan syndrome have multiple CALM and/or lentigines. Extracutaneous findings Neonates have a characteristic facial appearance consisting of a tall forehead, low posterior hairline, hypertelorism, downslanting palpebral fissures, epicanthal folds, short and broad, depressed nasal root, deeply grooved philtrum and micrognathia. The chest shape is unique with superior pectus carinatum and inferior pectus excavatum. Feeding difficulties,... [стр. 653 ⇒]

CARDIOFACIOCUTANEOUS SYNDROME Cardiofaciocutaneous (CFC) syndrome (MIM #115150) is characterized by short stature, congenital heart defects, intellectual disability, ectodermal abnormalities and a characteristic coarse facial appearance (Table 29.2). Numerous cutaneous findings have been reported in CFC. In 2010, Siegel and colleagues18 evaluated the cutaneous manifestations in 61 mutation-positive individuals with CFC syndrome. All had dermatologic findings. One of the striking features identified in this study was a high number of melanocytic nevi. In the study, 23% of participants had over 50 nevi and 36% of those patients reported over 100 nevi. The amount of nevi increased with age and were not a prominent feature in infancy. Keratosis pilaris and ulerythema ophryogenes were very common and affected the majority of individuals in childhood and adolescence (Fig. 29.3). Infantile hemangiomas occurred at a greater frequency when compared with the general population. Additional features in CFC include macrocephaly, characteristic facial appearance, growth retardation, cardiac defects, neurologic impairment, gastrointestinal dysfunction, and ocular abnormalities. CFC syndrome is caused by mutations in BRAF, MEK1 or MEK2.19,20 These mutations were discovered in part because of the similarity of the phenotypic features of Noonan and Costello syndromes, both of which were known to have mutations involving the RAS-MAPK pathway. Given insights into genetics and pathogenesis, it is not surprising that the main differential diagnoses for CFC syndrome include Noonan and Costello syndromes. COSTELLO SYNDROME Costello syndrome (CS) (MIM #218040) is a rare, autosomal dominant, multiple congenital anomaly syndrome associated with failure to thrive, developmental delay, and an increased risk of malignancy.21 The features of Costello syndrome in the neonatal and infantile period include macrosomia, severe feeding problems, developmental delay, coarse facial features, gingival hyperplasia, osteopenia, hypertrophic cardiomyopathy and atrial arrhythmias.22 The most common malignancies include rhabdomyosarcoma, neuroblastoma and transitional cell cancer of the bladder. CS is caused by mutations in the HRAS gene, at 11p15.5, leading to constitutive activation of the RAS-MAPK pathway.21 The cutaneous findings include curly... [стр. 654 ⇒]

U Ulcer, 28f, 28t–29t pressure, 82–85, 83f–84f Ulcerations, 111–139 conditions presenting with, 117b in congenital hemangioma, 347 of congenital syphilis, 172 course, management, treatment and prognosis of, 159 crusted, 82–84 cutaneous findings in, 158 diagnosis of, 159 differential diagnosis of, 159 in epidermolysis bullosa, 140 etiology/pathogenesis of, 159 extracutaneous findings in, 159 in giant juvenile xanthogranuloma, 428f iatrogenic causes of, 128 in infantile hemangiomas, 338–339, 339f infection of pre-existing, 158–161 infectious causes, 116t meatal, 90 oral and genital ulcerations with immunodeficiency, 505 oral ulcers, 146 overlying giant melanocytic nevi, 137–138 transient skin lesions, 117t treatment of, 346–347, 346b uncommon and rare causes, 118t in vascular anomalies, 136–137 Ulerythema ophryogenes, 417 Ullrich-Turner syndrome, 493 Ultraviolet B (UVB), 42 Ultraviolet protection, and thermal injury, 51–52 Ultraviolet-sensitive syndrome, 326t–327t, 330 Ultraviolet (UV) light, xeroderma pigmentosum and, 395 Umbilical anomalies granuloma, 109, 110f of omphalomesenteric duct, 109, 109f of urachus, 108, 109f Umbilical artery catheterization, 85, 86f Umbilical cord, funisitis of, 159 Umbilical polyp, 109f... [стр. 750 ⇒]

Kubba R., Mitchell J. N. S ., Rook A. Keratosis pilaris with recurrent folliculitis d ecalvans.— British Journal of Dermatology, 1975, 93, Suppl. 11, 55. Kuokkanen K. Keratosis follicularis spinulosa decalvans, in a family from northern F in lan d .— A cta Dermatovenereologica, 1971, 51, 146. M iller R. F. Epilating folliculitis of the glabrous skin. — Archives of Dermatology, 1967, 83, 115. M ertens R. L. J. Ulerythema ophryogenes and atopy. — Archives of Dermatology, 1968, 97, 662. Myers E. N., Stool S. E„ Koblenzer P. J. Congenital deafness, spiny hyperkeratosis and universal alopecia. — Archives of O tolaryngology (C hicago), 1971, 93, 68. M ehregan A. H„ H ardin I. Generalized follicular hamartoma. — Archives of Dermatology, 1973, 107, 435. Navaratnan A., H odgson G. A. Necrobiosis lipoidica presenting on the face and scalp. — British Journal of Dermatology, 1973, 89, Suppl. 9, 100. ^ Pinkus H. Differential patterns of elastic fibres in scarring and non-scarring alopecias.— Journal of Cutaneous Pathology, 1978, 5, 93. Presbury D. G. C., M arks R. The epidermal disorder in lichen planus: an in vitro study. — British Journal of Dermatology, 1974, 90, 373. Pye R. J., Peachey R. D. G., B urton J. L. Erosive pustular dermatosis of the scalp. — British Journal of Dermatology, 1979, 100, 559. Reinertson R. P. Pseudopelade with nail dystrophy. — Archives of Dermatology, 1958, 78, 282. Ronchese F. Pseudopelade. — Archives of Dermatology, 1960, 82, 336. Ridley С. M. Basal-cell carcinoma following X -ray epilation of the scalp. — British Journal of Dermatology, 1962, 74, 222. Shitara A., Iga resh i R., M orohashi M. Folliculitis decalvans and cellular immun ity — two brothers with oral candidiasis. (In Japanese). — Japanese Jo u rnal of Dermatology, 1974, 28, 133. Taylor A. M. R., H a m d en D. G., Fairburn E. A. Chromosomal instability associated with susceptibility to m alignant disease in patsients with porokeratosis of Mibelli. — Journal of the National Cancer Institute, 1973, 51, 371. Valentino A., A ndreassi L., Sh an o E. Sindrome de Piccardi — Little — Lassueur. — Giornale e Minerva Dermatologica, 1974, 109, 588. Videl J. Epidermolisis ampollares. — A ctas Dermo-Sifiliograficas, 1974, 65, 3. Waldorf D. S. Lichen planopilaris. — Archives of Dermatology, 1966, 93, 684. Woods B. Lichen post-aurique. — Transactions of the St. John’s Hospital Dermatological Society, 1968, 54, 118. [стр. 67 ⇒]