Laryngeal manifestations of pachyonychia congenita: a clinical case and discussion on management for the otolaryngologist.

BACKGROUND: Pachyonychia congenita is a rare keratinising disorder, which typically presents during the first three years of life and usually affects the nails and palmoplantar surfaces. It can involve the larynx and potentially result in life-threatening airway obstruction. METHODS: A case report is presented and the findings of a literature review are reported. The review involved a PubMed search using the keywords 'pachyonychia congenita' together with 'larynx', 'laryngeal involvement', 'laryngeal obstruction', 'airway obstruction', 'hoarseness' and/or 'stridor'. RESULTS: A five-year-old boy, with confirmed pachyonychia congenita, presented with complications of laryngeal involvement over a four-year period. He required three intubations and a tracheostomy for acute airway obstruction. Treatment with potassium titanyl phosphate laser laryngoscopy stabilised the progression of laryngeal disease. CONCLUSION: Patients with pachyonychia congenita and laryngeal involvement can have a varied presentation, ranging from hoarseness to acute airway obstruction. Management can be a challenge, requiring early evaluation, regular surveillance and aggressive treatment. This paper reports our experience in managing and treating the laryngeal complications of a child with pachyonychia congenita.

1,450-nm diode laser in combination with the 1550-nm fractionated erbium-doped fiber laser for the treatment of steatocystoma multiplex: a case report.

Steatocystoma multiplex (SM) is a rare condition characterized by multiple, small, asymptomatic dermal cysts. Treatment options are limited, with varying degrees of success; these include oral isotretinoin, surgical excision or drainage, and liquid nitrogen cryotherapy. The most effective method is excision, but cosmetic considerations, time, overall cost, and pain must be considered, because patients tend to have multiple cysts. Lasers, especially nonablative devices, have not frequently been used to treat SM. Herein, we present the case of a patient with isolated steatocystoma multiplex on the abdomen and lower chest with substantial clearance after two laser treatment sessions using two complementary lasers: a 1,450-nm diode laser to target the abnormal sebaceous glands and a 1,550-nm fractionated erbium-doped fiber laser to target the dermal cysts.

Pachyonychia congenita with laryngeal obstruction.

Pachyonychia congenita is a rare genodermatosis that can affect the larynx. Laryngeal obstruction is very unusual with only a few cases reported. A 2-year-old girl presented with typical clinical features of pachyonychia congenita shortly after birth. At age 9 months, following an upper respiratory infection, she developed stridor and hoarseness and was found to have severe laryngeal obstruction, which was felt to be secondary to pachyonychia congenita based on direct laryngoscopy and laryngeal biopsy. Leukokeratosis of her larynx was treated with CO(2) laser on three occasions, with improvement in her respiratory distress after each treatment. This report is the first case of pachyonychia congenita with laryngeal obstruction in which the gene mutation has been established (a deletional mutation in K6a), confirming that laryngeal obstruction can occur in PC-1.

Nevus sebaceus of Jadassohn.

The nevus sebaceus of Jadassohn (SNJ) is a hamartomatous disorder of the skin and its adnexa pertaining to the group of "organoid nevi,'' most frequently involving the face and scalp. During adulthood, patients with SNJ have a 10% to 20% risk of the development of cutaneous or adnexal neoplasia, so that prophylactic excision before puberty is recommended by most authors, and tissue expansion is considered to be the best method of reconstruction. It has been largely demonstrated in literature that most of the lesions that have been interpreted as basal cell carcinoma (BCC) are actually examples of primitive follicular induction or trichoblastomas, not authentic BCCs. A literature review on histopathologic findings associated with SNJ and a retrospective chart review of two cases occurring in young females are presented. In one case, the lesion was treated by intraoperative expander-assisted reduction and scalp graft (Case 1); in the other one, a primary closure with adjacent tissue was performed (Case 2). No signs of malignant degeneration or residual pathology have been found. For treatment of the biggest lesions, when preoperative tissue expansion cannot be performed, intraoperative one, transfer of a scalp graft has been shown to be a good reconstructive method. For the smallest lesions, a primary closure with adjacent tissue is sufficient.