AI Summary & Key Takeaways
AI InsightWe present these familial cases who were diagnosed with Ectrodactyly-ectodermal dysplasia-clefting syndrome as a result of clinical and histopathologic evaluation due to their rarity.
📌 3 Key Takeaways
Abstract
A family of four children where mother and father had history of consanguineous marriage presented at our clinic due to lack of hair growth, thinning of all body hair and finger deformities in their three daughters aged 10 years, six years and three months. Dermatological examination of the cases showed thinning of the hair on the scalp, eyebrows, and extremities, subungual hyperkeratosis in nails, palmoplantar hyperkeratosis, cutaneous xerosis and loss of sweating, conical appearance and hypodontia in the teeth. All three siblings were seen to have the 3rd and 4th digits on the hand and the 2nd, 3rd and 4th digits on the feet to be proximally conjoined. Histopathologic examination of the cutaneous biopsy materials taken from the patients revealed a decrease in the number and size of hair follicles and sebaceous glands. We present these familial cases who were diagnosed with Ectrodactyly-ectodermal dysplasia-clefting syndrome as a result of clinical and histopathologic evaluation due to their rarity.
Özet
Anne-baba arasında akraba evliliği öyküsü olan dört çocuklu bir aile 10 yaş, altı yaş ve üç aylık kız çocuklarında saçlarda uzamama, tüm vücut kıllarında seyrelme ve parmaklarda şekil bozukluğu şikayeti ile polikliniğimize başvurdu. Hastaların dermatolojik muayenesinde saçlar, kaşlar ve ekstremitelerde kıllarda seyrelme, tırnaklarda subungual hiperkeratoz, palmoplantar hiperkeratoz, deride yaygın terleme kaybı ve kuruluk, dişlerde konik görünüm ve hipodonti saptandı. Her üç kardeşin de ellerinde 3-4. parmaklarda, ayaklarında 2-3-4. parmaklarda proksimalde yapışıklık gözlendi. Hastalardan alınan deri biyopsi materyallerinin histopatolojik incelenmesinde kıl folikülleri ve sebase glandlarda sayıca azalma ve boyutlarda küçülme saptandı. Klinik ve histopatolojik değerlendirme sonucunda Ektrodaktili ektodermal displazi-klefting sendromu tanısı konulan bu ailesel olguları nadir gözlenmesi nedeniyle sunuyoruz.