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Pediatric - disorders of hair and nails
Terms in this set (44)
pachyonychia congenita (AD mutations in keratin 6A/B i,e, type 1 and type 2 16/17)
Name of syndrome characterized by discoloration and progressive hyperkeratosis of nail place most pronounced at free edge with a pincer like appearance (onychodystrophy), painful focal plantar keratoderma with hyperhidrosis and secondary bullae and fissures in childhood (palmar less severe) + pilosebaceous cysts, cheilitis, cornea dsytrophy and hoarseness ?
1 Jadassohn Lewandowski (mutation keratin 6A and 16)
Which type of pachyonychia congenita presents in late childhood or adulthood with recurrent paronychia, benign oral leukoplakia of the tongue and buccal mucosa and follicular hyperkeratosis of knees, elbows, back and buottock?
Oral leukoplakia of tongue and buccal mucosa occur in both pachyonychia congenital type 1 and dyskeratosis congenita. It is premalignant in which condition?
2 Jackson Lawler (keratin 6B and 17 mutations)
Type of pachyonychia congenita with milder keratoderma, minimal oral leukokeratosis + natal teeth and steatocystomas?
hypohidrotic ectodermal dysplasia (christ siemens touraine syndrome, XLR mtuations in ectodysplasin ED1 classically or AD/AR mutations in ectodysplasin receptor and receptor assocaited death domain; female carries may demonstrate features as a result of random x inactivation of ED1 with alopecia, dental defects, blaschkoid linear patches of hypohidrosis)
Affected newborns present with collodion like membrane or with marked skin scaling, scalp hair is sparse to absent and when present is usually blonde; hair may darken at puberty and secondary sexual hairs are normal; classically have frontal bossing, large nostrils, wide flat malar cheeks, thick everted lower lip, prominent chin, hypothricohsis with thin, light hair eyelashes absent, smooth think wrinked skin with darkeneing of skin under eyes, mild onychodystrophy, delayed dentition, peg shaped, conical or missing teeth, decreased sweeting so risk of hyperthermia and decrease lacrimation?
Hypohidrotic ectodermal dysplasia with immunodeficiency is a result of mutations in which gene which makes them susceptible to recurrent pyogenic or atypical mycobaterial infections?
hidrotic ectodermal dysplasia (Clouston syndrome, AD mutation in GJB6 connexin 30)
Name of condition that presents with palmoplnatar keratoderma, variable hyperkeratotic/thin/striated discolored nails, hypotrichosis with thin/brittle hair, +/-
conjunctivitis, strabismus and cataracts + tufted distal phalanges anomalies and NORMAL sweating, facial features and teeth
p63 (critical transcription factor required for ectodermal, orofacial and limb development; mutation is also in acro-dermato-ungunal-lacrimal-tooth syndrome, limb mammary syndrome, split hand foot malformation)
Rapp Hodgkin syndrome, Anykloblepharon ectodermal dysplasia clefting syndrome (AEC) and ectrodactylyl ectodermal dysplasia cleft lip/palate syndrome (EEC) exist on a spectrum and have overlapping features including wiry/sparse hair, dystorphic nails, decreased number of teeth/hypoplastic enamel, hypohidrosis, decrease tearing, short stature or poor weight gain due to which unifying mutation?
Name of ectodermal dysplasia due to p63 mutation syndrome with clefting of lip/palate/uvula, hypoplasia of maxillae, small narrow nails and small conical teeth?
ankylobelpharon ectodermal dysplasia clefting syndrome (AEC, ie hays well syndrome, one of the ectodermal dysplasias due to p63 mutation)
Name of ectodermal dysplasia due to p63 mutation syndrome with congenital fusion of eyelids (ankyloblepharon) a/w facial clefting or mid face hypoplasia; diffuse collodion like peeling/erythema seen at birth and scalp with chronic erosive dermatitis with frequent staphylococcus infections?
Ectrodactyly ectodermal dysplasia cleft lip/palate syndrome (EEC)
Name of ectodermal dysplasia due to p63 mutation syndrome with developmental anomaly of median ray of feet > hands leading to lobster claw deformity/missing digits, facial clefting, mild PPK, conductive hearing loss and GU anomalies ?
Rubinstein Taybi syndrome (sporadic mutation in CREBBP)
Name of syndrome with broad thumbs/halluces with racquet hails (brachyonychia) + multiple pilomatricomas + capillary malformations, short stature, severe mental retardation, cryptorchidism, congenital heart defects, typical facies (beaked nose, downslanting palpebral fissures, low set ears, epicanthal folds, and grimacing smile)
temporal triangular alopecia (if large areas of involvement consider cerebellotrigeminal dermal dysplasia)
Name of disorders present at birth but usually diagnosed between 2-9 years of age as localized triangular patch of alopecia involving frontotemporal scalp often unilateral (L>R) with decreased terminal hairs and increased vellus hairs?
Atrichia with papules (mutations in hairless HR gene, may be associated with vitamin D resistant rickets, hypocalcemia, secondary hyperparathyrodism and increased 1,25 OH vitamin D3)
Name of disorder whereby hair is normal at birth then is quickly shed after birth with development of follicular cysts and milia like papules appearing later in life?
Naxos (right) Carvajal (left)
Wooly hair is fine, dry and curly with corrugated apperance and can be nonsyndromic in AD or AR forms or syndromic in AR forms. What two syndromes present with PPK and wooly hair? Which one has right ventricular dysplasia/cardiomyopathy while the other is left sided?
umcombable hair (i..e pili trianguli etc canaliculi)
Presents during infancy or early childhood with hiar that is pale, blonde, dry and unruly with siny/spun glass apperance with mild onychodystrophy + various ectodermal dypslasias?
pili trianguli et canaliculi
Which type of hair disorder shows triangular or reniform with a canalicular longitudinal depression on light microscopy or EM of hair?
monilethrix (mutations in keratin 81, 83, 86 are AD and desmoglein 4 AR)
Name of hair disorder where hair is normal at birth and during infancy becomes short and brittle with a beaded appearance associated with koilonychia and keratosis pilaris? Mutations?
What is the most common skin association with monilethrix?
On light micoscopy, which hair disorders presents with uniform ellipitical nodes along hair shaft?
Name of hair disorder where hair is typically sparse or absent at birth with poor hair growth that appears spangled and can be associated with menkes kinky hair syndrome, bazex dupre chirstol syndrome, rombo syndrome, bjornstard syndrome, crandall syndrome?
Name of hair disorder that presents on LM with flattered, twisted hair shafts occurring at irregular intervals?
What is the most common hair shaft anomaly?
trichorrhexis nodosa (AD forms exists and associated with netherton syndrome, trichotihodystrophy, oculo-dental-digital dysplasia, citrullinemia, argininosuccinic aciduria)
Name of hair disorder that presents in infancy if inherited or adolescence if acquired (from trauma, chemical and thermal treatments) with variably dry, lusterless, sparse hair ?
Name of LM finding with intermittent nodules with the apperance of broom bristles ?
Which hair shaft disorder is a marker for netherton syndrome?
trichorrhexis invaginata (bamboo hair, AR mutation in SPINK5 which encodes LEKT1)
Name of hair disorder that presents with dry lusterless sparse hair growth and is a marker for netherton syndrome?
Which hair shaft finding shows shaft intussuscepting into itself creating apperance of a golf tee or ball in cup joint?
marie unna hypotrichosis (AD mutations in U2HR, on histology mild to moderate inflammation with decreased hair follicles with no scarring or birosis)
Name of hair disorder whereby at birth there is an absence of hair, eyebrows and eyelashes that grows in coarse and twisted in adolesence with progressive loss of hair and widely spaced central incisors?
alopecia mucinosa (i.e. follicular mucinosis, can be solitary on head and on bath have follicualr degeneration, accumualation of mucin within hair follicles, periappendageal perivascular and or iterstital lymphocytic/mixed inflammatory cell infiltrate)
Name of condition whereby presents in children with grouped follicular papules with or without erythema and scaling which may coallesce into boggy plaque that favors head, neck and upper torso but may involve scalp and eyebrows with prominent alopecia? It is usually idiopathic in children but rarely represents a cutaneous T cell lymphoma
CTCL (may check T cell receptor gene rearrangement assay if histologic findings suggest MF)
What condition must be considered in follicular mucinosis?
Loose anagen syndrome (typically sporadic, AD may be seen, defective anchoring of the hair shaft to follicle due to defective inner root sheath keratinization leading to easily and painlessly plucked hair; may be associated with noonan like syndrome caused by SHOC2 mutations)
Name of hair disorder that is common in young, fair haired girls 2-6 years of age with diffuse hair thinning and hair may appear fine, limp and matted. They usually grow out of this without any intervention.
loose anagen syndrome
Name of hair disorder on trichoscopy with multiple anagen hairs with ruffled cutis and misshapen bulbs (hockey stick)?
short anagen syndrome
Name of hair disorder present at birth with fine short hair and poor hair growth throughout the hairs due to shortened anagen growth phase and on histology see increased telogen hair?
Name of hair disorder that is an uncommon congenital alteration characterized by the growth of terminal hairs in a circumscribed area commonly lumbosarcral, anterior neck and elbows (hypertrihcosis cubiti). In generally no extracutaneous but rare associations with neurodevelopmental abnormalities?
congenital hypertrichosis generalized (can be both nonsyndromic or syndromic)
Name of hair disorder whereby patients have universal overgrowth of terminal hair ?
ambras (ass with mutations in trichorhino-phalangeal syndrome gene TRPS1)
Name of syndrome with excessive vellus like hairs on face, ears and shoulders and is one of the syndromes associated with congenial hypertrichosis generalized type?
cornelia de lange (AD mutation in NIPBL)
Name of syndrome with hirsutism, unibrow (synophrys), trichomeagy, low hairline, metal psychomotor retardation, hypertonicity, short statur, fifth finger clinodacytyl, simian crease, cryptorchidism, hypospadias, renal issues, congenital heart defects and recurrent lung infections/aspiration --> death or hearing loss?
Keratosis pilaris (abnormal keratinization of hair follicles on path with keratotic plugging of pilosebaceous follicle with mild hypogrnaulosis hyperkeratosis)
Name of condition that affects 25-60% of adolescents and adults with multiple small, scaling and skin colored to pink follicular papules that favor the cheeks, upper arms, thighs and buttocks that is often associated with atopy, xerosis, itchytosis vulgaris, trisomy 21 and some ectodermal dysplasias?
keratosis pilaris atrophicans ulerythema ophyrogenes
Name of condition that presents during infancy with erythematous papules with follicular plugging and atrophic scarring on eyebrows and cheeks and scalp, less commonly extremities as well as scarring alopecia of eyebrows that is usually sporadic and may be associated with various syndromes (cardio facio, noonan, cornelia de lange, rubenstein taybi, wooly hair)?
keratosis pilaris atrophoderma vermiculatum
Name of condition that presents in 5-12 year old with erythematous papules with follicular plugging, horn cysts, and atrophic cribifrom scarring on the cheeks and forehead, less commonly neck and extremities that is usually sporadic and may be assocaited with trisomy 21 or Rombo syndrome?
Name of syndrome that presents with atrophoderma vermiculatum, BCC, milia, telangiectasias, acral erythema?
Keratosis pilaris atrophicans, keratosis follicularis spinulosa decalvans subtype (XLR mutations in spermidine/spermine N1 acetyltransferase SSAT AND AD mutations in membrane bound transcription factor protease site 2)
Name of condition that presents in childhood with extensive keratotis pilaris and pink hyperkeratotic papules with follicular plugging and prgoressive scarring alopecia of eyebrows, eyelashes and scalp into adolescence with our without PPK, corneal dystrophy with photophobia and atopic disease?
eruptive vellus hair cysts (may represent developmental anomaly of vellus hair follicles)
Name of condition seen in school aged children and adolescents with 1 to 3 mm skin colored to hyperpigmented follicular papules on mid chest, face, neck, extremities, buttocks, back and abdomen that is often sporadic but may be seen with hidrotic ectodermal dysplasia, hypohidrotic ectodermal dysplasia, pachyonychia congenia ?
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