Diseases of the Skin Appendages


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Diseases of the Skin Appendages

  1. 1. Diseases of the Skin Appendages
  2. 2. Alopecia areata <ul><li>Characterized by rapid and complete loss of hair in one , or more often several round or oval patches </li></ul><ul><li>Usually on the scalp, bearded areas, eyebrows and eyelashes </li></ul><ul><li>1-5 cm </li></ul><ul><li>May progress to total loss of scalp hair – alopecia totalis, or hair loss involving the entire body – alopecia universalis </li></ul>
  3. 3. Ophiasis/sisaipho
  4. 4. Alopecia areata
  5. 5. Alopecia totalis
  6. 6. <ul><li>Usually occurs without associated disease </li></ul><ul><li>However, there is a higher incidence in patients with atopic dermatitis, Down syndrome, LP, LE, thyroiditis, MG and vitiligo </li></ul><ul><li>Nails may develop uniform pits that may form transverse or longitudinal lines – 10 % </li></ul>
  7. 7. etiology <ul><li>Cause unknown </li></ul><ul><li>Most evidence points toward its being an autoimmune disease mediated by the cellular arm and modified by genetic factors </li></ul><ul><li>25% report family history </li></ul><ul><li>Patients with early onset, severe, familial clustering alopecia areata have a unique and highly significant association with HLA antigens DR4, DR11, and DQ7 </li></ul>
  8. 8. <ul><li>histology </li></ul><ul><ul><li>In early disease there is a helper T-cell lymphocytic infiltrate in the peribulbar area of anagen or early catagen follicles </li></ul></ul><ul><li>DDX </li></ul><ul><ul><li>Tinea capitis, early lupus erythematosis, syphilis, congenital triangular alopecia, alopecia neoplastica and trichotillomania </li></ul></ul>
  9. 10. TX <ul><li>Intralesional injections of corticosteroid suspensions, q 6 weeks </li></ul><ul><li>High-strength topical steroid creams </li></ul><ul><li>Anthralin </li></ul><ul><li>Minoxidil alone or combined therapy </li></ul>
  10. 11. <ul><li>Spontaneous recovery is extremely common </li></ul><ul><li>Tendency is for spontaneous recovery in patients who are post pubertal at onset </li></ul><ul><li>Predictors of poor prognosis include the presence of atopic dermatitis, childhood onset, widespread involvement, ophiasis, duration of longer than 5 years, and onychodystrophy </li></ul>
  11. 12. Telogen effluvium <ul><li>Early and excessive loss of normal club hairs from normal resting follicles in the scalp </li></ul><ul><li>Loss results from traumatization of the normal hair by some stimulus, such as surgery, parturition, fever, drugs, or traction which precipitates the anagen phase into catagen and telogen phases </li></ul><ul><li>Follicle is not diseased and inflammation is absent </li></ul>
  12. 13. Telogen effluvium
  13. 14. <ul><li>“lots of hairs coming out by the roots” </li></ul><ul><li>Loss is diffuse and only infrequently causing clinically perceptible thinning of hair </li></ul><ul><li>Normal telogen count is below 10% </li></ul><ul><li>Can be estimated by the pull test </li></ul><ul><li>Grasping 40 hairs firmly between thumb and forefinger, followed by a slow pull </li></ul><ul><li>Greater than 4-6 club hairs is abnormal </li></ul>
  14. 15. <ul><li>100 – 150 hairs lost daily </li></ul><ul><li>150 – 400 lost in telogen effluvium </li></ul>
  15. 16. Postpartum telogen effluvium <ul><li>Between 2-6 months postpartum </li></ul><ul><li>Diffuse pattern, may be first noted over anterior scalp </li></ul><ul><li>May continue for another 2-6 months </li></ul>
  16. 17. Drug induced telogen effluvium <ul><li>Amphetamines, aminosalicyclic acid, bromocriptine, captopril, coumarin, carbamazepine, cimetidine, danazol, enalapril, lithium carbonate, levodopa, metyrapone, metoprolol, propranolol, pyridostigimine and trimethadione </li></ul>
  17. 18. TX <ul><li>No specific therapy </li></ul><ul><li>In the majority of cases it will stop spontaneously within a few months and the hair will regrow </li></ul><ul><li>Chronic form may occur </li></ul><ul><li>5% minoxidil solution </li></ul><ul><li>education </li></ul>
  18. 19. Anagen effluvium <ul><li>Seen frequently following the administration of cancer chemotherapeutic agents, such as antimetabolites, alkylating agents, and mitotic inhibitors </li></ul><ul><li>Only anagen hairs are involved </li></ul><ul><li>With cessation of the drug the follicle resumes normal activity within a few weeks </li></ul><ul><li>Process being entirely reversible </li></ul><ul><li>Topical minoxidil may decrease the period of baldness by an average of 50 days </li></ul>
  19. 20. Anagen effluvium
  20. 21. Androgenetic alopecia male-pattern baldness <ul><li>Shows itself during the twenties of early thirties by gradual loss of hair, chiefly from the vertex and frontotemporal regions </li></ul><ul><li>Several patterns of this type occur </li></ul><ul><li>Most frequent is the biparietal recession with loss of hair on the vertex </li></ul><ul><li>Rate varies </li></ul>
  21. 22. <ul><li>The exact mechanisms responsible for androgenetic alopecia are still unknown, however, there is no doubt that inherited factors and the effect of androgens on the hair follicle are most responsible </li></ul><ul><li>Pathogenesis involves lengthening of telogen phase and shortening of the anagen phase </li></ul>
  22. 23. TX <ul><li>Minoxidil </li></ul><ul><li>2% and 5% </li></ul><ul><li>Indefinite treatment to maintain a response </li></ul><ul><ul><li>1/3 cases grow cosmetically useful hair </li></ul></ul><ul><li>Finasteride </li></ul><ul><ul><li>Effective in preventing further hair loss and in increasing the hair counts </li></ul></ul><ul><li>Hair transplantation </li></ul>
  23. 24. Androgenetic alopecia in women <ul><li>Generally diffuse hair loss throughout the midscalp, sparing the frontal hairline except for slight recession </li></ul><ul><li>The midline part is an important clinical clue to the diagnosis, revealing this central thinning by the appearance of the “Christmas tree pattern” </li></ul><ul><li>The cause is now believed to be a genetic predisposition in combination with an excessive androgen response </li></ul>
  24. 25. TX <ul><li>Topical minoxidil 2% </li></ul>
  25. 26. Androgenetic alopecia in women
  26. 27. Other forms of alopecia
  27. 28. trichotillomania <ul><li>A neurotic practice of plucking or breaking hair from the scalp or eyelashes </li></ul><ul><li>Usually localized but may be widespread </li></ul><ul><li>Areas of alopecia characteristically contain hairs of various lengths </li></ul><ul><li>Seen mostly in girls under 10, may also be seen in boys and adults </li></ul>
  28. 29. <ul><li>It has been suggested that one ask the child not if but rather how the removal is done </li></ul><ul><li>Shave 3 X 3 cm area and watch the hair regrow normally. Hairs in this ‘skin window” will be too short for plucking </li></ul><ul><li>Biopsy – high number of catagen hairs, pigmentary defects and casts, trichomalacia and heorrhage </li></ul>
  29. 30. trichotillomania <ul><li>May be a manifestation of obsessive-compulsive disorder </li></ul><ul><li>May be assoc with depression or anxiety </li></ul><ul><li>TX – psychotherapy, behavioral therapy or an appropriate psychopharmacologic medication </li></ul><ul><li>fluoxetine </li></ul>
  30. 31. trichotillomania
  31. 32. Hot comb alopecia <ul><li>Develops characteristically on the crown and spreads peripherally to form a large oval area of partial hair loss </li></ul><ul><li>Initially reported in black women who straightened their hair with hot combs </li></ul><ul><li>The hot petrolatum used with the iron causes thermal damage to the hair follicle </li></ul>
  32. 33. Pseudopelade of Brocq (alopecia cicatrisata) <ul><li>A rare form of scarring alopecia </li></ul><ul><li>Destruction of the hair follicle produces multiple, round, oval, or irregularly shaped, hairless, cicatricial patches of varying sizes </li></ul><ul><li>Coin sized and white or slightly pink colored with a smooth, shiny, marble like or ivory, atrophic, “onion skin” surface </li></ul>
  33. 34. <ul><li>Inflammation is completely absent </li></ul><ul><li>No pustules, crusts, or broken off hairs </li></ul><ul><li>Insidious onset </li></ul><ul><li>Permanent and slowly progressive </li></ul><ul><li>Topical and intralesional steroids, long-term TCN in antiinflammatory doses- not often successful </li></ul>
  34. 35. pseudopelade
  35. 36. Traction alopecia <ul><li>Occurs from prolonged tension on the hair </li></ul><ul><li>Either from the hair tightly braided or in a ponytail </li></ul>
  36. 37. Tractional alopecia
  37. 38. Pressure alopecia
  38. 39. Pressure alopecia <ul><li>Occurs frequently on the occipital areas of babies lying on their backs </li></ul><ul><li>In adults it is seen most often after prolonged pressure on the scalp during general anesthesia, with the head fixed in one position </li></ul><ul><li>Most likely due to pressure induced ischemia </li></ul>
  39. 40. Loose anagen syndrome
  40. 41. Loose anagen syndrome <ul><li>Disorder in which anagen hairs may be pulled from the scalp with little effort </li></ul><ul><li>Occurs mostly in blonde girls </li></ul><ul><li>Improves with age </li></ul>
  41. 42. Alopecia syphilitica <ul><li>May have a typical moth-eaten appearance on the occipital scalp, a generalized thinning, or a combination of the two </li></ul><ul><li>Eyebrows and lashes, and other body hair may be involved </li></ul><ul><li>May be the first sign of a syphilis infection </li></ul>
  42. 43. Alopecia syphilitica
  43. 44. Alopecia syphilitica
  44. 45. Follicular mucinosis (alopecia mucinosa) <ul><li>Most commonly occurs on the scalp or beard area </li></ul><ul><li>Manifest as deposition of mucin in the outer root sheath and sebaceous glands </li></ul><ul><li>Inflammatory reaction produces alopecia, and at times hypopigmentation </li></ul><ul><li>Primary cases occur either as localized lesions of the head or neck typically resloving within a year </li></ul>
  45. 46. Follicular mucinosis (alopecia mucinosa) <ul><li>More generalized lesion have a longer course </li></ul><ul><li>Young people are primarily affected </li></ul><ul><li>A secondary type – associated with cutaneous T-cell lymphoma, usually more widespread and in older persons </li></ul>
  46. 47. Follicular mucinosis
  47. 48. Inflammatory alopecia <ul><li>May be seen in lichen simplex chronicus and various eczematous changes on the scalp, including kerion </li></ul><ul><li>DLE, lichen planopilaris, sarcoidosis, and folliculitis decalvans are the commonest inflammatory causes of cicatricial alopecia </li></ul>
  48. 49. Vascular or neurologic alopecia <ul><li>Most often of the lower extremities </li></ul><ul><li>May be seen in diabetes mellitus or atherosclerosis </li></ul>
  49. 50. Endocrinologic alopecia <ul><li>May occur in various endocrinologic disorders </li></ul><ul><li>Hypothyroidism – hair becomes dry, brittle, coarse and sparse </li></ul><ul><li>Hyperthyroidism – hair becomes extremely fine and sparse </li></ul><ul><li>Some women develop telogen effluvium 2-4 months after discontinuing anovulatory agents </li></ul>
  50. 51. Tumor alopecia <ul><li>Refers to hair loss in the immediate vicinity of either benign or malignant tumors of the scalp </li></ul><ul><li>Syringomas, nerve sheath myxomas, and steatocytoma multiplex </li></ul><ul><li>Alopecia neoplastica – hair loss from metastatic tumors, most commonly breast carcinoma </li></ul>
  51. 52. Congenital alopecia <ul><li>Occurs either as total or partial hair loss, or lack of initial growth </li></ul><ul><li>Accompanied usually by other ectodermal defects of the nails, teeth and bone </li></ul><ul><li>Hair is light and sparse, and grows slowly </li></ul><ul><li>Congenital triangular alopecia and aplasia cutis congenita are examples of congenital localized absence of hair </li></ul><ul><li>Hidrotic ectodermal dysplasia - diffuse </li></ul>
  52. 53. Syndromes that include abnormalities of the hair
  53. 54. Albright’s disease (polyostotic fibrous dysplasia) <ul><li>May present as slowly progressive lifelong unilateral hair loss </li></ul><ul><li>Scalp, pubic, axillary, and palpebral </li></ul>
  54. 55. <ul><li>Sickle cell disease is often characterized by scantiness of body and facial hair </li></ul><ul><li>Cronkhite-Canada syndrome characterized by alopecia, skin pigmentation, onychodystrophy, malabsorption, and generalized gastrointestinal polyposis </li></ul>
  55. 56. Marinesco-Sjorgren syndrome <ul><li>Cerebellar ataxia, mental retardation, congenital cataracts, inability to chew food, thin brittle fingernails, and sparse hair </li></ul><ul><li>Autosomal recessive inheritance </li></ul>
  56. 57. trichothiodystrophy <ul><li>Brittle hair with markedly reduced sulfur content </li></ul><ul><li>Sulfur reduced 50% of normal value </li></ul><ul><li>Distinctive features under polarized light and scanning electron microscopy </li></ul>
  57. 58. trichothiodystrophy <ul><li>With light microscopy trichoschisis (clean fractures) may be seen </li></ul><ul><li>With polarized microscopy the hair shows alternating bright and dark regions </li></ul>
  58. 59. trichothiodystrophy
  59. 60. trichothiodystrophy <ul><li>Hair findings present in all cases </li></ul><ul><li>Other variable features include short stature, mental deficiency, ichthyosis, nail dystrophy, ocular dysplasia, photosensitivity and infertility </li></ul><ul><li>Various names associated with different combinations Brown’s syndrome, BIDS, IBIDS, PIBIDS and Tay’s syndrome </li></ul>
  60. 61. trichothiodystrophy <ul><li>Different mutations in the ERCC2 DNA repair gene may lead to different phenotypic expressions of the disease </li></ul>
  61. 62. Generalized hair follicle hamartoma syndrome <ul><li>Generalized trichoepitheliomas, alopecia and myasthenia gravis </li></ul><ul><li>Localized case report </li></ul>
  62. 63. POEMS syndrome (Crow-Fukase syndrome) <ul><li>P olyneuropathy </li></ul><ul><li>O rganomegaly </li></ul><ul><li>E ndocrinopathy </li></ul><ul><li>M -protein </li></ul><ul><li>S kin changes </li></ul><ul><li>Diffuse hyperpigmentation, dependent edema, skin thickening, hyperhidrosis and hypertrichosis </li></ul>
  63. 64. POEMS syndrome (Crow-Fukase syndrome)
  64. 65. POEMS syndrome
  65. 66. Cartilage-hair hypoplasia <ul><li>Short limbed dwarfism and abnormally fine and sparse hair in children </li></ul><ul><li>Especially susceptible to viral infections and recurrent respiratory infections </li></ul>
  66. 67. AIDS patients <ul><li>Many black patient with AIDS have experienced softening, straightening, lightening and thinning of their hair </li></ul><ul><li>HIV patients may also experience elongated eyelashes and telogen effluvium </li></ul>
  67. 68. Tricho-rhino-phalangeal syndrome <ul><li>Genetic disorder consisting of fine and sparse scalp hair, thin nails, pear-shaped broad nose, and cone shaped epiphyses of the middle phalanges of some fingers and toes </li></ul><ul><li>Autosomal dominant and recessive types </li></ul>
  68. 69. Lipedematous alopecia <ul><li>Consists of shortened hairs, with thickening of the scalp associated with an increase in subcutaneous fat </li></ul><ul><li>Scalp may be as much as 15 mm thick </li></ul><ul><li>Primarily affects persons of color </li></ul>
  69. 70. Hallerman-Streiff syndrome <ul><li>Rare condition </li></ul><ul><li>Bird-like facies with a pronounced beaklike nose, microphthalmia, micrognathia, congenital cataracts, and hypotrichosis </li></ul><ul><li>Hair is diffusely sparse and brittle </li></ul><ul><li>Sutural alopecia is characteristic of this syndrome – hair loss following the lines of the cranial sutures </li></ul>
  70. 71. Hallerman-Streiff syndrome <ul><li>Small face with disproportionately large head </li></ul>
  71. 72. Progeria (Hutchinson-Gilford syndrome) <ul><li>Characterized by the appearance of premature aging </li></ul><ul><li>Marked by failure to develop normally in growth after the first year of life </li></ul><ul><li>Large bald head and lack of eyebrows and eyelashes are distinctive </li></ul><ul><li>Skin is wrinkled, pigmented and atrophic </li></ul>
  72. 73. Progeria (Hutchinson-Gilford syndrome) <ul><li>Nails are thin and atrophic </li></ul><ul><li>Most patient lack subcutaneous fat </li></ul><ul><li>Intelligence remains intact </li></ul><ul><li>Arteriosclerosis, anginal attacks, and hemiplegia may occur, followed by death from coronary heart disease at an early age </li></ul>
  73. 74. Progeria (Hutchinson-Gilford syndrome)
  74. 75. Papillon-Lefevre syndrome <ul><li>Hyperkeratosis palmaris et plantaris, periodontosis, and sparsity of the hair </li></ul><ul><li>Hyperhidrosis and other signs and symptoms begin early in life </li></ul><ul><li>Autosomal recessive </li></ul>
  75. 76. Klippel-Feil syndrome <ul><li>Consists of low posterior scalp hairline extending onto the shoulders, with a short neck, limiting movement of the neck, and suggestive of webbing </li></ul><ul><li>Cervical vertebrae are fused </li></ul><ul><li>Strabismus, nystagmus, cleft palate, bifid uvula, and high palate are other features </li></ul><ul><li>Occurs mostly in girls </li></ul>
  76. 77. Klippel-Feil syndrome
  77. 78. McCusick’s syndrome <ul><li>Includes short-limbed dwarfism and fine, sparse, hypoplastic and dysmorphic hair </li></ul>
  78. 79. Turner’s syndrome <ul><li>Short stature, webbing of the neck, low posterior hairline margin, increased carrying angle of the elbows (cubitus valgus), and infantile development of the breasts, vagina and uterus </li></ul><ul><li>Coarctation of the aorta is frequent </li></ul><ul><li>Alopecia of the frontal scalp and cutis laxa </li></ul>
  79. 80. Turner’s syndrome <ul><li>Caused by ovarian dysgenesis </li></ul><ul><li>Only 45 chromosomes present </li></ul><ul><li>Sex chromosomes have an XO pattern </li></ul>
  80. 81. Noonan’s syndrome <ul><li>Short stature with atypical webbing of the neck, low hairline in the back, prominent and low-set ears, and cubitus valgus. </li></ul><ul><li>Similar to Turner’s and frequently termed male Turner’s syndrome </li></ul><ul><li>Absence of coarctation of the aorta </li></ul><ul><li>Valvular pulmonary stenosis is the typical heart lesion </li></ul>
  81. 82. Noonan’s syndrome
  82. 83. Werner’s syndrome <ul><li>Shortness of stature, cataracts, skin changes, premature graying and alopecia, atrophy of the muscles and subcutaneous tissue, and bone atrophy of the extremities to produce spindly extremities </li></ul><ul><li>Skin changes include poikiloderma, scleroderma, atrophy, hyperkeratosis and leg ulcers </li></ul><ul><li>Skin has a dark gray or blackish diffuse pigmentation </li></ul>
  83. 84. Werner’s syndrome <ul><li>A high-pitched voice and hypogonadism in both sexes are distinctive in this syndrome </li></ul><ul><li>Diabetes mellitus is frequently present </li></ul><ul><li>Because most of the signs are not fully manifested before the age of 30, the diagnosis is usually made in middle age </li></ul><ul><li>Autosomal recessive </li></ul><ul><li>DNA helicase mutation </li></ul><ul><li>Patients usually die before they are 50 from malignant disease or vascular accident </li></ul>
  84. 85. Werner’s syndrome
  85. 86. Rothmund-Thomson syndrome <ul><li>Characterized by early onset poikiloderma, short stature, sun sensitivity, bone defects, and hypogonadism </li></ul><ul><li>Sparseness of eyelashes, eyebrows, or scalp hair has been reported in 60% of cases </li></ul><ul><li>Mutation in a DNA helicase gene </li></ul>
  86. 87. Rothmund-Thomson syndrome
  87. 88. Rothmund-Thomson syndrome
  88. 89. HAIR COLOR <ul><li>Black and brown hair – eumalanin </li></ul><ul><li>Blonde and red hair – pheomelanin </li></ul><ul><li>Changes in hair color occur in various metabolic disorders </li></ul><ul><li>Phenylketonuria hair becomes blond </li></ul><ul><li>Bleaching effect in homocystinuria </li></ul><ul><li>Oasthouse disease </li></ul><ul><li>albinism </li></ul>
  89. 91. <ul><li>Triparanol assoc. with hypopigmented hair </li></ul><ul><li>Minoxidil causes darkening </li></ul><ul><li>Diazoxide gives reddish tint </li></ul><ul><li>Chloroquine therapy may cause whitening </li></ul><ul><li>Kwashiorkor red-blonde color in infants </li></ul><ul><li>B12 deficiency and interferon therapy may cause whitening </li></ul><ul><li>Canities segmentata sideropenica – alternating light and dark bands seen with iron-deficiency anemia </li></ul>
  90. 92. <ul><li>Gray hair (canities) melanogenic activity is decreased as a result of fewer melanocytes and melanosomes as well as gradual loss of tyrosinease activity </li></ul><ul><li>Genetically determined and may start at any age </li></ul><ul><li>Early graying (before age 20 in whites 30 in blacks) usually familial, may occur in progeria, Rothmund-Thomson syndrome, Book’s syndrome, and Werner’s syndrome </li></ul>
  91. 93. poliosis <ul><li>Gray hair occurring in circumscribed patches </li></ul><ul><li>Waardenburg’s syndrome, piebaldism, and tuberous sclerosis </li></ul><ul><li>Also assoc with vitiligo and Vogt-Koyanagi syndrome </li></ul><ul><li>May be seen in alopecia areata with new hair growth </li></ul><ul><li>Tietze’s syndrome, Alezzandrini’s syndrome, and NF </li></ul><ul><li>May signal a regressing area of a scalp melanoma </li></ul>
  92. 94. poliosis in vitiligo
  93. 95. poliosis
  94. 96. <ul><li>Green hair has been trace to copper in the water of swimming pools </li></ul><ul><li>Occurs only in blonde and light hair </li></ul><ul><li>Premature whitening of the scalp hair is usually caused by vitiligo, sometimes without recognized, or actually without, lesions of glabrous skin </li></ul>
  96. 98. Hair casts <ul><li>Mimics nits closely </li></ul><ul><li>Affects women chiefly </li></ul><ul><li>Results from long term and frequent tractions </li></ul><ul><li>Many scalp hairs bear a white keratinous sleeve about 3-5 mm long, which lies within 1-3 cm of the scalp surface </li></ul><ul><li>Unlike a nit can be slid along the hair shaft </li></ul><ul><li>Their bluish yellow fluorescence under Wood’s light may cause them to be confused with tinea capitis </li></ul>
  97. 99. Hair casts <ul><li>Formed by retention and desquamation of segments of the root sheaths </li></ul><ul><li>0.025% tretinoin lotion has been found to be effective </li></ul>
  98. 100. Pili torti (twisted hairs) <ul><li>A malformation of hair characterized by twisting of the hair shaft on its own axis </li></ul><ul><li>The hair shaft is segmentally thickened and light and dark segments are seen </li></ul><ul><li>Scalp, eyebrows, and eyelashes </li></ul><ul><li>Hairs are brittle and easily broken </li></ul><ul><li>Typically occurs in childhood and improves by puberty </li></ul>
  99. 101. Pili torti (twisted hairs) <ul><li>May be associated with patchy alopecia </li></ul><ul><li>Follows a dominant inheritance pattern </li></ul><ul><li>May be assoc with Bjornstad’s syndrome, citrullinemia, Menkes’ kinky hair syndrome, Bazex’s follicular atrophoderma syndrome trichothiodystrophy </li></ul><ul><li>Assoc with etretinate and isotretinoin </li></ul>
  100. 102. Pili torti
  101. 103. Pili torti
  102. 104. Pili torti (twisted hairs)
  103. 105. Menkes’ Kinky Hair Syndrome (steely hair disease) <ul><li>Patients have deficiency of serum copper and copper-dependent enzymes </li></ul><ul><li>Pili torti, and often monilethrix and trichorrhexis nodosa are common </li></ul><ul><li>Sex-linked recessive disorder </li></ul><ul><li>Seen only in boys </li></ul><ul><li>Characteristic ivory color of the hair appears between 1 and 5 months </li></ul>
  104. 106. Menkes’ Kinky Hair Syndrome (steely hair disease) <ul><li>Drowsiness, lethargy, convulsive seizures, and severe neurologic deterioration, with periodic hypothermia ensue </li></ul><ul><li>Hairs become wiry, sparse, fragile, and twisted about their long axis </li></ul><ul><li>Skin is pale and the face is pudgy </li></ul><ul><li>Upper lip has an exaggerated “cupid’s bow” </li></ul>
  105. 107. Menkes’ Kinky Hair Syndrome (steely hair disease)
  106. 108. Menkes’ Kinky Hair Syndrome (steely hair disease) <ul><li>A distinctive neurochemical pattern in the plasma allows for early diagnosis </li></ul><ul><li>Institution of copper histidine treatment has shown promising results in some infants </li></ul><ul><li>The occipital horn syndrome is a milder variant </li></ul>
  107. 109. Uncombable hair syndrome
  108. 110. Uncombable hair syndrome (pili triangulati et canaliculi) <ul><li>Noted in the first years of life as dry, blonde, shiny hair that stands straight out from the scalp and cannot be combed </li></ul><ul><li>Longitudinal grooves make hair rigid </li></ul><ul><li>Autosomal dominant inheritance </li></ul><ul><li>Sporadic cases reported </li></ul><ul><li>Some cases improve spontaneously in childhood </li></ul>
  109. 111. Uncombable hair syndrome
  110. 112. Monilethrix (beaded hairs) <ul><li>Characterized by dryness, fragility, and sparseness of the scalp hair, with fusiform or spindle-shaped swellings of the hair shaft separated by narrow atrophic segments </li></ul><ul><li>Hair tends to break at the delicate internodes </li></ul><ul><li>Involvement of the hair may occur during pregnancy and resolve after delivery </li></ul>
  111. 113. Monilethrix (beaded hairs) <ul><li>Improvement may occur with age </li></ul><ul><li>May be seasonal improvement during the summer </li></ul><ul><li>Autosomal dominant </li></ul><ul><li>Has been described in assoc with Menkes’ </li></ul><ul><li>Disease of the hair cortex </li></ul><ul><li>No effective treatment </li></ul>
  112. 114. Monilethrix (beaded hairs)
  113. 115. Monilethrix (beaded hairs)
  114. 116. Trichorrhexis nodosa <ul><li>Affected hair shafts may have small white nodes arranged at irregular intervals </li></ul><ul><li>The nodes are the sites of fracture of the hair cortex </li></ul><ul><li>Hairs soon break at the nodes </li></ul><ul><li>Found mostly on the scalp </li></ul><ul><li>Often in a small area or areas </li></ul><ul><li>Pubic area, axillae and chest may be involved </li></ul>
  115. 117. Trichorrhexis nodosa <ul><li>Has been described in assoc with arginosuccinicaciduria, Menkes’ kinky hair syndrome, Netherton’s syndrome, hypothyroidism </li></ul>
  116. 118. Trichorrhexis nodosa <ul><li>Proximal </li></ul><ul><li>Distal (split ends) </li></ul><ul><li>Acquired localized </li></ul><ul><li>Treatment </li></ul><ul><li>Avoid traumatization to the hair </li></ul>
  117. 119. Trichorrhexis nodosa
  118. 120. Trichorrhexis invaginata (bamboo hair) <ul><li>Caused by intussusception of the hair shaft at the zone where keratinization begins </li></ul><ul><li>The invagination is caused by the softness of the cortex in the keratogenous zone </li></ul><ul><li>patient has nodosa ball and socket deformities </li></ul><ul><li>Associated with Netherton’s syndrome with ichthyosiform erythroderma or ichthyosis linearis circumflexa </li></ul>
  119. 121. Trichorrhexis invaginata
  120. 122. Trichorrhexis invaginata (bamboo hair)
  121. 123. Trichorrhexis invaginata (bamboo hair) <ul><li>Occ only the proximal half of the abnormality is seen – golf tee hairs </li></ul><ul><li>Seen on scalp </li></ul><ul><li>Also eyebrows, eyelashes, and rarely in other hairy areas </li></ul><ul><li>Hair sparsity is noted all over the body </li></ul><ul><li>Bamboo hairs may become normal in a few years </li></ul><ul><li>Autosomal recessive mode of inheritance </li></ul>
  122. 124. Netherton’s syndrome
  123. 125. Netherton’s syndrome
  124. 126. Pili annulati (Ringed Hair) <ul><li>The hair seems banded by alternating segments of light and dark color when seen in reflected light </li></ul><ul><li>Light bands are caused by clusters of abnormal air-filled cavities which scatter light </li></ul><ul><li>Hair growth is normal </li></ul><ul><li>No other assoc abnormalities </li></ul><ul><li>Autosomal dominant </li></ul><ul><li>Begins in infancy and requires no treatment </li></ul>
  125. 127. Pili annulati (Ringed Hair)
  126. 128. Pili pseudoannulati <ul><li>Mimics pili annulati </li></ul><ul><li>Bright segments are caused by reflection and refraction of light by flattened, twisted surfaces of hair </li></ul><ul><li>Variant of normal hair </li></ul>
  127. 129. Kinked hair <ul><li>Acquired progressive kinking of the hair </li></ul><ul><li>Has a structural abnormality of kinking and twisting of the hair shaft at irregular intervals </li></ul><ul><li>Begins in men in the late teens and early twenties </li></ul><ul><li>Begins on the frontotemporal or vertex regions and progresses to both the parietal and frontal areas </li></ul>
  128. 130. Kinked hair <ul><li>Usually straight, light brown hair becomes curly, frizzy, and lusterless </li></ul><ul><li>May be precursor to male-pattern hair loss </li></ul><ul><li>May be induced by drugs, notably retinoids </li></ul><ul><li>May occur in AIDS patients </li></ul>
  129. 131. Woolly hair <ul><li>Present at birth and usually most severe during childhood </li></ul><ul><li>Variable amelioration in adulthood </li></ul><ul><li>Four subgroups </li></ul><ul><ul><li>Hereditary woolly hair (AD) </li></ul></ul><ul><ul><li>Familial woolly hair (AR) </li></ul></ul><ul><ul><li>Woolly hair nevus </li></ul></ul><ul><ul><li>Naxos disease </li></ul></ul>
  130. 132. Woolly hair <ul><li>Tend to unite into locks </li></ul><ul><li>No assoc cutaneous or systemic diseases </li></ul>
  131. 133. Woolly hair
  132. 134. Woolly hair NOT
  133. 135. Plica neuropathica <ul><li>Curling, looping, intertwisting, and felting or matting of the hair in localized areas of the scalp </li></ul><ul><li>Predisposing factors include kinky hairs and neurotic mental state </li></ul>
  134. 136. Pseudofolliculitis barbae <ul><li>Hairs that appear at the surface and curve back and pierce the skin as ingrowing hairs </li></ul><ul><li>Results in inflammatory papules and pustules </li></ul><ul><li>May scar </li></ul><ul><li>Chief cause is close shaving of curly hair </li></ul><ul><li>Seen in more than 50% of black men </li></ul><ul><li>Whites uncommonly affected </li></ul>
  135. 138. Pseudofolliculitis barbae
  136. 139. Pseudofolliculitis barbae <ul><li>Treatment </li></ul><ul><li>Laser hair removal </li></ul><ul><li>stop shaving </li></ul><ul><li>Deforming keloids may result </li></ul>
  137. 140. Pili multigemini <ul><li>Rare malformation of the pilary apparatus </li></ul><ul><li>Characterized by the presence of bifurcated or multiple divided hair matrices and papillae, giving rise to the formation of multiple hair shafts within the individual follicles </li></ul><ul><li>No treatment </li></ul>
  138. 141. Pili bifurcati <ul><li>Described in a 3 year old seen for hair loss </li></ul><ul><li>Bifurcation was found in short segments along the shafts of several hairs </li></ul><ul><li>Anomaly was transient </li></ul>
  139. 142. Trichostasis spinulosa <ul><li>A common disorder of the hair follicles that clinically gives the impression of follicular keratosis </li></ul><ul><li>Follicles are filled with funnel-shaped horny plugs within which are bundles of vellus hairs </li></ul><ul><li>Hairs are round at their proximal ends and are shredded distally </li></ul><ul><li>Occurs on the nose and forehead of elderly </li></ul><ul><li>Shoulders and back </li></ul>
  140. 143. Trichostasis spinulosa <ul><li>Results from retention of telogen hairs </li></ul><ul><li>Treatment with keratolytics after using a wax depilatory </li></ul><ul><li>Tretinoin 0.05% solution </li></ul>
  141. 144. Trichostasis spinulosa
  142. 145. Trichostasis spinulosa
  143. 146. Trichostasis spinulosa the removed plug <ul><li>Microscopically the tufts are made up of several dozen fine, stubbly hairs </li></ul>
  144. 147. Intermittent Hair-Follicle Dystrophy <ul><li>New disorder of the hair follicle leading to increased fragility of the shaft, with no identifiable biochemical disturbance </li></ul>
  145. 148. Bubble Hair Deformity <ul><li>Reported in a 16 year old girl </li></ul><ul><li>Developed brittle, fragile hairs in localized areas of he scalp </li></ul><ul><li>Hairs became straight and stiff </li></ul><ul><li>Small bubble-like defects were found within the hairs shafts on light and electron microscopy </li></ul><ul><li>Proved to be caused by heating of the hair </li></ul><ul><li>All hair will develop bubbles of gas when exposed to heat </li></ul>
  146. 149. Hypertrichosis <ul><li>An overgrowth of hair not localized to the androgen-dependent areas of the skin. </li></ul><ul><li>Several forms exist </li></ul>
  147. 150. Localized acquired hypertrichosis <ul><li>Dermal tumors, such as melanocytic nevi, smooth muscle hamartoma, meningioma or Becker’s nevi may have excessive terminal hair growth </li></ul><ul><li>PCT and Variegate porphyria </li></ul><ul><li>May be more generalized in the Gunther variety of erythropoietic porphyria </li></ul>
  148. 152. Becker’s nevus
  149. 153. Becker’s nevus
  150. 154. PCT
  151. 155. Localized congenital hypertrichosis <ul><li>Progressive, excessive growth of lanugo hairs that often begins in infancy </li></ul><ul><li>Hairs may reach a length of 10 cm </li></ul><ul><li>May become coarse </li></ul><ul><li>Regression in adolescence has been observed </li></ul><ul><li>Familial cases and sporadic </li></ul><ul><li>Appears to be only of cosmetic significance </li></ul>
  152. 156. Localized congenital hypertrichosis <ul><li>Other causes include congenital nevocytic nevi, anterior cervical hypertrichosis, simple nevoid hypertrichosis, or as a sign of underlying spinal dysraphism (when occurring over the sacral midline </li></ul>
  153. 159. Generalized Congenital Hypertrichosis (congenital hypertrichosis lanuginosa) <ul><li>Rare type of excessive and generalized hairiness </li></ul><ul><li>Fully penetrant X-linked dominant trait </li></ul><ul><li>Entire body covered with fine vellus hairs 2-10 cm long, spares palms and soles </li></ul><ul><li>Scalp hair is normal </li></ul><ul><li>May be assoc with dental anomalies and gingival fibromatosis </li></ul>
  154. 160. “ dog-faced boy” “human werewolf” “human Skye terrier”
  155. 162. Generalized Congenital Hypertrichosis (congenital hypertrichosis lanuginosa) <ul><li>Other cases may be secondary to drug ingestion by the mother </li></ul><ul><li>Fetal hydantoin syndrome </li></ul><ul><li>Fetal alcohol syndrome </li></ul><ul><li>Minoxidil – case of generalized hypertrichosis and multiple congenital defects in a baby born to a mother who used minoxidil throughout pregnancy </li></ul>
  156. 163. Generalized or patterned acquired hypertrichosis <ul><li>These cases include those caused by acquired hypertrichosis lanuginosa, those associated with various syndromes, and those secondary to drug intake </li></ul><ul><li>Also an ominous sign of internal malignancy </li></ul>
  157. 164. Syndromes <ul><li>Lipoatrophic diabetes, stiff skin syndrome, Rubenstein-Taybi syndrome, Laband syndrome, Cornelia de Lange’s syndrome, Hurler’s syndrome, Morogu’s syndrome, leprechaunism, , Winchester’s syndrome, the Schynzel-Giedier syndrome </li></ul>
  158. 165. Brachmann- de Lange syndrome
  159. 166. Hunter syndrome
  160. 167. drugs <ul><li>Minoxidil, cyclosporine, diphenylhydantoin, diazoxide, streptomycin, penicillamine, corticosteroids, danazol, psoralens, hexachlorobenzene, PUVA, topical steroids and topical androgens </li></ul>
  161. 168. cyclosporine
  162. 169. minoxidil
  163. 170. Hirsutism <ul><li>An excess of terminal hair growth in women in a pattern more typical of men </li></ul><ul><li>Androgen-dependent growth areas affected include the upper lip, cheeks, chin, central chest, breasts, lower abdomen and groin </li></ul><ul><li>May or may not be assoc with other signs of virilization </li></ul><ul><li>Acne may be seen </li></ul><ul><li>When virilization accompanies hirsutism, especially when progression is rapid, a neoplastic cause is likely </li></ul>
  164. 171. Hirsutism pathogenesis <ul><li>Racial variation </li></ul><ul><li>May result either from excessive of androgens from either the ovary or the adrenal gland, or from excessive stimulation by pituitary tumors </li></ul><ul><li>All cases of progressive or severe hirsutism should be investigated for an endocrinopathy </li></ul>
  165. 172. Hirsutism pathogenesis <ul><li>Ovarian causes include polycystic ovarian disease and a variety of ovarian tumors, both benign and malignant </li></ul><ul><li>Stein-Leventhal syndrome characterized y hirsutism 50% </li></ul><ul><li>Serum free testosterone is generally elevated as is luteinizing hormone </li></ul>
  166. 173. Hirsutism pathogenesis <ul><li>Adrenal causes include congenital adrenal hyperplasia and adrenal tumors such as adrenal adenomas and carcinomas </li></ul><ul><li>Adrenogenital syndrome is an autosomal dominant disorder resulting from deficiencies in the following enzymes: </li></ul><ul><ul><li>21-hydroxylase </li></ul></ul><ul><ul><li>11B-hydroxylase </li></ul></ul><ul><ul><li>3B-hydroxy steroid dehydrogenase </li></ul></ul>
  167. 174. Hirsutism pathogenesis <ul><li>Pituitary causes include Cushing’s disease, acromegaly, and prolactin-secreting adenomas </li></ul><ul><li>Other conditions in which prolactin levels may be elevated and that may lead to hirsutism include hypothyroidism, phenothiazine intake, and hepatorenal failure </li></ul>
  168. 175. Hirsutism pathogenesis <ul><li>Other causes include the exogenous intake of androgens and certain high-progesterone bcp (uncommonly) </li></ul><ul><li>Minoxidil, diazoxide, corticosteroids and phenytoin, which have been reported to cause hirsutism, generally cause hypertrichosis </li></ul>
  169. 176. Hirsutism evaluation <ul><li>History should focus on onset and progression, virilization, menstrual history, and family/racial background </li></ul><ul><li>Laboratory evaluation should include a total testosterone and a dehydroepiandrosterone sulfate level for relatively stable and mild hirsutism </li></ul><ul><li>Dexamethasone suppression test to screen for Cushing’s disease </li></ul>
  170. 177. Hirsutism evaluation <ul><li>In patients with menstrual dysfunction add prolactin level and an LH/FSH ratio to evaluate suspected polycystic ovarian disease </li></ul>
  171. 178. diagnosis <ul><li>Refer to endocrinologist </li></ul><ul><li>Refer to gynecologist </li></ul><ul><li>Major elevation in the DHEA sulfate level (above 7000 ng/ml) suggests an adrenal neoplasm CT is recommended </li></ul>
  172. 179. treatment <ul><li>Once appropriate testing has led to diagnosis and referral of patients requiring special methods of specific treatment, such as surgical intervention, therapeutic alternatives including cosmetic treatments, nonspecific suppressive therapy, and specific antiandrogens </li></ul><ul><li>Shaving, wax depilatories, chemical depilatories, bleaching of the hair, laser hair removal, and electrolysis </li></ul>
  173. 180. treatment <ul><li>Oral contraceptives and glucocorticoids </li></ul><ul><li>bcp helpful in 75% of hirsute women </li></ul><ul><li>Antiandrogens include, cimetidine, cyproterone acetate, spironolactone, flutamide, and ketoconazole </li></ul><ul><li>Finasteride </li></ul><ul><li>Gonadotropin-releasing hormone agonist such as leuprolide and nafarelin </li></ul>
  174. 182. Trichomycosis Axillaris <ul><li>Characterized by 1-2 mm nodules of different colors occurring on the affected hair shafts in the axillary or pubic areas </li></ul><ul><li>Attached firmly to the hair shaft </li></ul><ul><li>Color may vary from yellow, red or black </li></ul><ul><li>Hyperhidrosis is usually present </li></ul><ul><li>Large number of corynebacterium are present in the concretions </li></ul>
  175. 183. Trichomycosis Axillaris <ul><li>Topical antibiotic preparations </li></ul><ul><li>Treat hyperhidrosis </li></ul><ul><li>shaving </li></ul>
  176. 184. Trichomycosis Axillaris