Marie Unna Tipi Konjenital Hipotrikoz:  Ayn� Aileden 4 Olgu Sunumu

Serdar, Zehra A�iran; Mansur, A. T�lin; Ayd�ng�z, �kbal E.; �nal Sar�kan, Gaye; Aker, F�gen; �elikel, �ule

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Marie Unna Tipi Konjenital Hipotrikoz: Ayn� Aileden 4 Olgu Sunumu [Turkderm-Turk Arch Dermatol Venereol]

Turkderm-Turk Arch Dermatol Venereol. 2006; 40(B): 13-16

Marie Unna Tipi Konjenital Hipotrikoz: Ayn� Aileden 4 Olgu Sunumu

Zehra A�iran Serdar¹, A. T�lin Mansur¹, �kbal E. Ayd�ng�z¹, Gaye �nal Sar�kan¹, F�gen Aker², �ule �elikel³
¹Haydarpa�a Numune E�itim Ve Ara�t�rma Hastanesi Deri ve Z�hrevi Hastal�klar Klini�i, �stanbul, T�rkiye
²Haydarpa�a Numune E�itim Ve Ara�t�rma Hastanesi Patoloji B�l�m�, �stanbul, T�rkiye
³Marmara �niversitesi T�p Fak�ltesi Histoloji Anabilim Dal�, �stanbul, T�rkiye

Marie Unna tipi konjenital hipotrikoz (MUKH), ya�am�n ilk g�nlerinde ba�layan sa� kayb� ve k�l g�vdesinin yap�sal bozukluklar� ile karakterize otozomal dominant ge�i�li, nadir g�r�len bir sa� hastal��d�r. Bu bildiride ayn� aileden d�rt MUKH olgusu sunulmaktad�r. Anne ve �� ocu�undan olu�an olgular�n t�m�nde do�um s�ras�nda farkedilen ve daha sonra giderek artan sa� kayb� mevcuttu. V�cut k�llar�, ka�lar ve kirpiklerde seyreklik g�zlendi. Anne ve 9 ya��ndaki k�z �ocu�unun �st kesici di�leri birbirinden ayr�kt�. Bunun d��nda, t�m olgularda, t�rnaklar, di�ler, fiziksel ve mental geli�im normal olarak de�erlendirildi. I��k mikroskopisinde sa�larda incelme ve kal�nla�malarla d�zensiz bir g�r�n�m ve k�l g�vdesinde kendi etraf�nda k�vr�lma izlendi. Taramal� elektron mikroskopik incelemede k�l g�vdesinde yass�la�ma, boyuna oluklanma, k�tik�lde y�pranma gibi, MUKH i�in tipik bulgular saptand�. Histopatolojik olarak epidermis normal olarak de�erlendirilirken, folik�l say�lar�nda belirgin azalma g�zlendi. Varolan folik�llerde hipoplazi ve atrofi, bir folik�l �evresinde hafif lenfositik infiltrasyon, dermal kollajende kabala�ma izlendi. MUKH�un nadir rastlanan bir antite olmas� nedeniyle olgular�n klinik, histopatolojik ve elektron mikroskopik �zellikleri mevcut literat�r bilgileri ��nda tart��ld�.

Anahtar Kelimeler: Marie Unna tipi konjenital hipotrikoz, herediter hipotrikoz, alopesi

Marie Unna Type Congenital Hypotrichosis: Four Cases From a Single Family

Zehra A�iran Serdar¹, A. T�lin Mansur¹, �kbal E. Ayd�ng�z¹, Gaye �nal Sar�kan¹, F�gen Aker², �ule �elikel³
¹Haydarpa�a Numune E�itim Ve Ara�t�rma Hastanesi Dermatoloji Klini�i, �stanbul, Turkey
²Haydarpa�a Numune E�itim Ve Ara�t�rma Hastanesi Patoloji B�l�m�, �stanbul, Turkey
³Marmara �niversitesi T�p Fak�ltesi Histoloji Anabilim Dal�, �stanbul, Turkey

Marie Unna type congenital hypotrichosis (MUCH) is a rare, autosomal dominant hair disorder characterized by progressive hair loss starting in early childhood and by structural defects of hair shafts. In this report, four members of a family with MUCH, mother and her three children were presented. All the patients had shown scalp hair loss at birth which had progressed in time. Body hair, eyebrows and eyelashes were also sparse. With the exception of the mother and 9-year-old girl who had widely spaced central incisors, the teeth and nails were normal in the rest of the cases. Physical and mental development were normal in all of the cases. Light microscopy showed irregularities of the hair shaft due to presence of thin and thick portions and twists and kinks on the long axis. Scanning electron microscopy revealed typical findings of MUCH, such as longitudinal grooving in hair shafts and wearing of cuticulae. Histopathological examination of scalp showed a normal epidermis and prominent decrease in hair density. The follicles were either hypoplastic or atrophic. In addition, lymphocytic infiltration around a follicle and coarse dermal collagen were observed. The clinical, histopathological, and electron microscopic features of MUCH have been reviewed as a rare entity.

Keywords: Marie Unna congenital hypotrichosis, hereditary hypotrichosis, alopecia

Sorumlu Yazar: Zehra A�iran Serdar, T�rkiye
Makale Dili: T�rk�e

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