Category Archives: Genodermatoses

Genodermatoses

Trichorrhexis nodosa

Trichorrhexis nodosa.

History

         A 5-year old girl presented with sparse, short and easily-broken scalp hairs. The mother noticed the hair defect since early months of life. The skin, nails, teeth and mentality were normal. There was no family history of similar hair problem. Many hairs were plucked, mounted on a microscopic slide and carefully examined under the light microscope. Hair shaft fractures were seen with the hair ends at the fracture line look like two brooms stuck together.

Congenital venous malformation

History

          A 16-year-old male patient has had an asymptomatic solitary rounded spongy compressible vascular nodule in the forehead close to frontal hair line since birth. The nodule has deep purplish hue. Based on clinical background, the lesion was diagnosed as a case of cavernous hemangioma which is a misnomer as it is not a neoplasm but rather a congenital venous malformation.

Geographic tongue in Atopic Dermatitis

History

        The mother of the this 5-year-old girl has noticed that many irregular smooth map-like patches of depapillated areas on the dorsum of the tongue of her daughter of about two years duration. She also stated that these patches were rapidly changing their shapes, sites and sizes. The girl had no history of psoriasis or any other related disease.

Darier’s disease

History

        A 17-year-old girl presented with brownish dirty warty papules of wide distribution on the axillae, trunk and neck of many years duration. Skin biopsy was consistent with Darier’s disease. Family history of similar condition was negative.

Nails in Darier’s disease

History

      A case of Darier’s disease diagnosed since 15 years ago. On examination a characteristic nail dystrophy was found in form of longitudinal white lines and longitudinal ridges of the nail plate run over the lunula to the free margin of the nail and end with triangular nicks in addition to subungual debris.

Infantile hemangioma

History

          A less than 2 years old infant presented with congenital large asymptomatic compressible vascular swelling composed of strawberry-colored superficial part and deeper bluish spongy part involved the upper part of the left cheek.

* Courtesy Dr. Khalil Al-Hamdi

Port-wine hemangioma

History

       A 3-month-old infant has had unilateral right-sided port-wine stain associated with cleft lip since birth. There were no associated neurological or systemic defects. The mother complained of two bouts of spontaneous bleeding from the undersurface of the lip at the site of the vascular malformation which have been stopped with prolonged pressure on site of bleeding.