Samer Ghosn, MD Associate professor, Derpartment of Dermatology American University of Beirut Medical Center. Follicular lesions

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1 Samer Ghosn, MD Associate professor, Derpartment of Dermatology American University of Beirut Medical Center Follicular lesions

2 Introduction Follicular lesions are important to recognize: For proper management Benign or malignant May be part of syndromes

3 But very cumbersome!!! - & lots of misnomers! A simple two-step approach may be helpful to reach the diagnosis

4 1-Follicular lesions Differentiation predominantly toward which structure? Infundibulum Isthmus Outer root sheath Inner root sheath Matrix Perifollicular fibrous sheath Hair germ (trichoblast) Mixtures of. This assumes a good understanding of the follicular anatomy

5 Cyst Malformation Hamartoma Hyperplasia Neoplasia Benign Malignant 1- Follicular lesions where does it fit?

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7 INFUNDIBULUM six lesions

8 Uppermost portion Continuous with the epidermis Till the level of entry of the sebaceous duct

9 LESION 1 (infundibulum)

10 Epidermal inclusion cyst Infundibulum Cyst Gardner syndrome, basal cell nevus syndrome, and pachyonychia congenita

11 LESION 2 (infundibulum)

12 Dilated pore of Winer Infundibulum Cyst (variation of EIC/ giant comedone) No association

13 LESION 3 (infundibulum)

14 Seborrheic keratosis Infundibulum Benign tumour If multiple: Leser-Trelat sign

15 LESION 4 (infundibulum)

16 Nevus comedonicus Infundibulum Malformation Epidermal nevus syndrome

17 LESION 5 (infundibulum)

18 Trichoadenoma Infundibulum Benign tumour No association

19 LESION 6 Nevus sebaceus Hamartoma (EH, sebaceous, apocrine, trichoblast) Epidermal nevus syndrome, garden for several tumors!

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21 TRANSITION BETWEEN INFUNDIBULUM AND ISTHMUS one lesion

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24 Steatocystoma/ vellus hair cysts Isthmus at entry of sebaceous duct Cyst Multiplex: Pachyonychia congenita type 2

25 UPPER ½ OF ISTHMUS Three lesions

26 The IRS loses cohesion and is shed in the middle of the isthmus The lower nonkeratinizing ORS is v.similar to ORS of the inferior hair follicle. The pattern of keratinization in the upper keratinizing part = trichilemmal keratinization 3 lesions

27 LESION 1 (isthmus)

28 Pilar cyst (Wen) Isthmus (upper half) Cyst Familial AD

29 LESION 2 (isthmus) Proliferating trichilemmal cyst Isthmus (upper half) Benign tumour (aka Proliferating tricholemmal cystic acanthoma)

30 LESION 3 (isthmus) Malignant trichilemmal cyst Isthmus (upper half) Malignant tumour (aka Proliferating trichilemmal cystic carcinoma)

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32 THE OUTER ROOT SHEATH Three lesions

33 Pinkish Clear PALISADING

34 LESION 1 (ORS)

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37 Trichilemmoma ORS Benign neoplasia Cowden s syndrome

38 Cowden s syndrome

39 LESION 2 (ORS)

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41 Tumor of the follicular infundibulum ORS Benign neoplasia No association

42 LESION 3 (ORS)

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44 Pilar sheath acanthoma ORS Cystic Neoplasia No association

45 MATRIX HAIR SHAFT One lesion

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47 LESION 3 (PILOMATRICAL DIFFERENTIATION

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50 Pilomatricoma Matrix hair shaft Benign tumor (has a malignant counterpart) Rubinstein-Taybi syndrome, myotonic dystrophy >Turner syndrome, Goldenhar syndrome, Churg-Strauss syndrome, sternal cleft and mild coagulative defect, and sarcoidosis. Pilomatrixomalike changes have been observed in the cutaneous cysts of persons with Gardner syndrome.

51 INNER ROOT SHEATH One lesion

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54 VATS IRS Polyoma virus infection

55 VATS-CPC

56 THE PERIFOLLICULAR FIBROUS SHEATH 2 important lesions

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58 LESION 1 Angiofibroma (fibrous papule of the nose, koenen tumor, pearly penilr papule) Benign tumors Association: Tuberous sclerosus, burt-hogg-dube syndrome, MEN 1

59 LESIONS 2 & 3

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64 Fibrofolliculoma &/or trichodiscoma -Benign tumor of perifollicular fibrous sheath - Birt-Hogg-Dube syndrome Follicular fibroma -Benign tumor of perifollicular fibrous sheath - Hornstein-Knickenberg syndrome

65 CASE A 40-y.o F with asyx facial papules and history of pneumothoraces - many years +FH

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67 Birt-Hogg-Dube syndrome AD Schmidt et al.: gene locus on chr 17p11.2. Gene encodes folliculin, a protein highly conserved and expressed in the lungs, skin and kidneys Gene locus close to p53 gene locus (17p13.1)? tumor formation

68 Birt-Hogg-Dube syndrome Skin: fibrofolliculomas, trichodiscomas & acrochordons Others: angiolipomas, perivascular fibromas, lipomas, collagenomas and oral papules. Kidney: malignant chromophobe carcinomas Lung: cysts or spontaneous pneumothoraces

69 Birt-Hogg-Dube syndrome Timely diagnosis important to id extracutaneous disease Renal cancers are the major cause of morbidity and mortality Renal ultrasound or abdominal/pelvic CT scan Screening of family members & genetic counseling

70 Bert hugsdube pneumothorax Renal cell Ca

71 T R I C H O B L A S T Three lesions

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73 TRICHOBLAST BASOPHILIA MATRIX

74 TRICHOBLAST PALISADING ORS

75 LESION 1 (trichoblast)

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79 Trichoblastoma (trichoepithelioma) Trichoblast (follicular germ) Benign neoplasia Familial, Brook-Spiegler syndrome, Rombo syndrome

80 LESION 2 (trichoblast)

81 Basal cell carcinoma (trichoblastic carcinoma) Trichoblast (follicular germ) Malignant neoplasia Gorlin syndrome, Rombo syndrome

82 Trichoblastoma VS. Trichoblastic carcinoma (BCC) Architecture (well circumscribed, symmetrical, invasive, infiltrating, ) Fibrous component (mesenchymal bodies) v.s clefting artifact. Other criteria: Follicular differentiation, mucinous stroma, apoptosis, inflammation, immunohistochemistry,

83 LESION 3

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85 TRICHOFOLLICULOMA Cystic tumor with successful attempts to form hair shafts No association

86 LESION 4 (trichoblast)

87 Trichoblastic proliferation overlying DF Trichoblast (follicular germ) Hyperplasia

88 The end