Chapter 49 - Keratosis Pilaris and Other Follicular Keratotic Disorders Flashcards
TABLE 49-1
Differential Diagnosis of Follicular Keratosis
DIAGNOSIS
Common; affects lateral cheeks, arms, and legs; associated with xerosis, ichthyosis vulgaris, atopic dermatitis
Keratosis pilaris
TABLE 49-1
Differential Diagnosis of Follicular Keratosis
DIAGNOSIS
Uncommon; loss of eyebrows; strongly associated with Noonan syndrome and cardiofaciocutaneous syndrome
Ulerythema ophryogenes
TABLE 49-1
Differential Diagnosis of Follicular Keratosis
DIAGNOSIS
Uncommon; honeycomb atrophy affects cheeks
Atrophoderma vermiculatum
TABLE 49-1
Differential Diagnosis of Follicular Keratosis
DIAGNOSIS
Rare; X-linked; triad of follicular hyperkeratosis, alopecia or atrichia, photophobia
Keratosis follicularis spinulosa decalvans or ichthyosis follicularis, alopecia, and photophobia syndrome
TABLE 49-1
Differential Diagnosis of Follicular Keratosis
DIAGNOSIS
Rare; autosomal recessive; scalp hair fails to regrow after being shed in infancy; follicular plugs or cysts appear later
Atrichia with papular lesions
TABLE 49-1
Differential Diagnosis of Follicular Keratosis
DIAGNOSIS
Rare; autosomal dominant; follicular keratosis, psoriasiform intertrigo, alopecia, fiery-red mucosa, photophobia, pulmonary disease; presumed abnormality of desmosomes or gap junctions
Hereditary mucoepithelial dysplasia
TABLE 49-1
Differential Diagnosis of Follicular Keratosis
DIAGNOSIS
Rare; autosomal dominant; mutations in GJB2; characteristic sandpaper-like keratoderma; sensorineural hearing loss
Keratitis, ichthyosis, deafness syndrome
TABLE 49-1
Differential Diagnosis of Follicular Keratosis
DIAGNOSIS
Adult onset; favors women; keratotic plugs surrounded by violaceous erythema; scarring alopecia
Lichen planopilaris (and Graham Little-Piccardi-Lassueur syndrome)
TABLE 49-1
Differential Diagnosis of Follicular Keratosis
DIAGNOSIS
Round to oval groups of keratotic follicular papules
Lichen spinulosus
TABLE 49-1
Differential Diagnosis of Follicular Keratosis
DIAGNOSIS
Rare; autosomal dominant; characteristic “beaded” pattern of hair on microscopy; perifollicular erythema and follicular keratosis are common; nail changes may occur
Monilethrix
TABLE 49-1
Differential Diagnosis of Follicular Keratosis
DIAGNOSIS
Caused by vitamin A deficiency; xerosis, keratotic plugs, abnormal hair; ocular disease; poor growth; increased risk of infection-related mortality
Phrynoderma
TABLE 49-1
Differential Diagnosis of Follicular Keratosis
DIAGNOSIS
Erythematous follicular papules; lesions coalesce into plaques with “islands of sparing”; orange-red keratoderma
Pityriasis rubra pilaris
TABLE 49-1
Differential Diagnosis of Follicular Keratosis
DIAGNOSIS
Comedo-like lesions composed of keratin and vellus hairs; middle to lower central face affected
Trichostasis spinulosa
TABLE 49-1
Differential Diagnosis of Follicular Keratosis
DIAGNOSIS
Uncommon; associated with immune suppression; keratotic papules with spiny follicular spicules; most commonly affects central face; variable alopecia (mainly of eyebrows)
Trichodysplasia spinulosa
TABLE 49-2
Syndromes Associated with Follicular Atrophoderma
MODE OF INHERITANCE
Bazex syndrome
(Bazex-Dupre-Christol syndrome)
X-linked dominant
TABLE 49-2
Syndromes Associated with Follicular Atrophoderma
MODE OF INHERITANCE
Rombo syndrome
Autosomal dominant
TABLE 49-2
Syndromes Associated with Follicular Atrophoderma
MODE OF INHERITANCE
Conradi-Hunermann-Happle syndrome
(X-linked dominant chondrodysplasia punctate)
X-linked dominant,
lethal in males
TABLE 49-2
Syndromes Associated with Follicular Atrophoderma
MODE OF INHERITANCE
Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis
Autosomal recessive
TABLE 49-2
Syndromes Associated with Follicular Atrophoderma
MODE OF INHERITANCE
Nevus comedonicus
Somatic mutation
TABLE 49-2
Syndromes Associated with Follicular Atrophoderma
DIAGNOSIS
Hypotrichosis, pili torti, hypohidrosis, milia, development of basal cell carcinomas in adolescence
Bazex syndrome
(Bazex-Dupre-Christol syndrome)
TABLE 49-2
Syndromes Associated with Follicular Atrophoderma
DIAGNOSIS
Hypotrichosis, especially of eyelashes; peripheral cyanosis; basal cell carcinomas and trichoepitheliomas
Rombo syndrome
TABLE 49-2
Syndromes Associated with Follicular Atrophoderma
DIAGNOSIS
Congenital onset; blaschkoid erythema with adherent scale; lesions resolve in months, replaced by follicular atrophoderma; cataracts, shortening of limbs, frontal bossing, saddle nose, low-set ears
Conradi-Hunermann-Happle syndrome
(X-linked dominant chondrodysplasia punctate)
TABLE 49-2
Syndromes Associated with Follicular Atrophoderma
DIAGNOSIS
Congenital, diffuse ichthyosis, hypohidrosis, hypotrichosis; woolly hair in one pedigree
Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis
TABLE 49-2
Syndromes Associated with Follicular Atrophoderma
DIAGNOSIS
Blaschkoid distribution of comedo-like plugs in dilated follicular ori ces; cribriform atrophy follows extrusion of comedones
Nevus comedonicus
TABLE 49-2
Syndromes Associated with Follicular Atrophoderma
DIAGNOSIS
Mutation in EBP, encoding emopamil-binding protein, relevant in cholesterol biosynthesis
Conradi-Hunermann-Happle syndrome
(X-linked dominant chondrodysplasia punctate)
TABLE 49-2
Syndromes Associated with Follicular Atrophoderma
DIAGNOSIS
Described in consanguineous families; mutations in ST14, encoding matriptase, identified
Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis
TABLE 49-2
Syndromes Associated with Follicular Atrophoderma
DIAGNOSIS
Mutations in FGFR2, identified in lesional skin (germline mutations in FGFR2 cause Apert syndrome)
Nevus comedonicus
