Pachyonychia Congenita With of the Larynx Arnold M.

Cohn, MD; John


McFarlane, MD; John Knox,

\s=b\ Pachyonychia congenita is a genetic syndrome of epithelial dysplasia that is in-

herited as an autosomal dominant trait. Its unique involvement within the larynx of a 3-year-old boy prompted this brief report of its clinical behavior and management.

(Arch Otolaryngol 102:233-235, 1976)



later, he once again became hoarse. Recur-


of the lesion at the left vocal process and posterior commissure was resected and the patient once again is currently free of laryngeal symptoms. The only other member of this family with this syndrome is the patient's father. In addition to the typical nail and skin changes, he also was hoarse as a small child, but he never experienced any problem with respiratory obstruction. The hoarseness improved spontaneously over a period of several years and has not recurred. His larynx presently appears normal. If the clinical course of the patient is similar to that of his father, it would be expected that the laryngeal problems may improve with age.

eruption of teeth, and hoarsewith thickening of the posterior commissure.2-5 The rarity of this lesion prompted this brief clinical report of a 3-year-old patient with extensive laryngeal involvement. REPORT OF A CASE

3-year-old boy was born with thickening of his fingernails and toenails. The nails appeared fairly normal at the base, but were elevated along the free margin by keratinous material and the dorsum was discolored (Fig 1). He also had follicular hyperkeratosis of his knee (Fig 2) and feet (Fig 3). The perineum was extremely involved (Fig 4). Buccal and lingual leukoplakia and angular chilosis without eviA

congenita (JadasPachyonychi a sohn-Lewandowsky syndrome) described

in 1906.1 It confirst sists of thickening of fingernails and toenails as well as leukokeratosis oris. It is inherited as a single autosomal dominant gene with incomplete penetrance.2 In any one family, the clinical picture is fairly uniform; however, the different manifestations may vary from one family to another. Abnormalities that have been found in association with the nail lesions include multiple epithelial cysts of the face, neck, and upper part of the trunk, hyperhidrosis of the soles, abnormally coarse hair, lesions of the oral cavity similar to the white sponge nevus that show no tendency was


develop malignant neoplasm,


Accepted for publication Oct 6, 1975. From the departments of otorhinolaryngology

and communicative sciences (Drs Cohn and McFarlane), and dermatology (Dr Knox), Baylor College of Medicine, Houston. Reprint requests to the Department of Otorhinolaryngology and Communicative Sciences, Baylor College of Medicine, Houston, TX 77025

(Dr Cohn).


dence of candidiasis had also been noted. Three months prior to his first admission, he developed an upper-respiratory tract infection that was associated with hoarseness. Three weeks before his first admission, he developed intermittent respiratory difficulty with sternal retraction, flaring of nasal alae, and stridor that was unresponsive to conservative management with cool mist, bronchodilators, antibiotics, and expectorants. He was then referred and admitted for a suspension laryngoscopy that was performed with the patient under general anesthesia. Multiple white, exophytic lesions were found bilaterally involving the ventricles, true cords, and subglottis (Fig 5, Left). These were excised (Fig 5, Right) using

microlaryngeal techniques. Rapid improvement in the patient's airway ensued and his voice quality gradually improved during the next five weeks. Seven months

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The microscopic appearance of the laryngeal lesions (Fig 6) was identical to that described by Gorlin and Chandhry5 for involved oral and lingual

noticeable thickwhich demonstrated acanthosis and parakeratosis. A characteristic feature of the epithelial abnormality consists of intracellular vacuolization that extends throughout the epithelium. A vascular stroma is present; a mild inflammatory infiltrate, consisting mostly of mature lymphocytes, is also present in the subjacent connective tissue. This spectrum of epidermal dysplasia has been well described in the dermatology literature, but laryngeal inmucosa.



ening of the epithelium,

Fig 1.—Fingernails of patient with pachyonychia coloration and elevation of nail bed.

Fig 3.—Hyperkeratosis


plantar surface of

congenita showing characteristic dis¬

lesions of


Fig 4.—Diffuse involvement of perineum with hyperkeratosis.


Fig 5.—Left, Multiple exophytic


Fig 2.—Follicular hyperkeratotic

lesions in

larynx. Right, Airway appears open after exci¬

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ful the

hyperkeratosis and blistering of soles, and the Assuring at the angles of the mouth. When hoarse¬ ness is an initial symptom, periodic direct laryngoscopy is indicated to in¬ sure against impending respiratory obstruction.

References 1. Jadassohn J, Lewandowsky F: Pachyonychia congenita. Iknograph Dermatol 1:29,1906. 2. Soderquist NA, Reed WB: Pachyonychia congenita with epidermal cysts and other congenital dyskeratoses. Arch Dermatol 97:31-33,

Fig 6.—Histopathologic pattern of laryngeal lesion showing marked acanthosis, parakeratosis, and intracellular vacuolization (hematoxylin-eosin, original magnification 130). volvement of this severity has not been previously reported. TREATMENT

Various forms of treatment have been advocated for the skin and nail problems, including high doses of



A, vitamin E, x-ray therapy, acid plasters, nail removal,

excision and skin graft, protective footware, and even hypnosis.68 These measures have failed to produce any permanent solution to the distressing morbidity related primarily to pain-

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1968. 3. Moynahan EJ, Shrank WB: Pachyonychia congenita. Proc R Soc Med 59:975-976, 1966. 4. Jackson ADM, Lawler SD: Pachyonychia congenita: A report of six cases in one family. Ann Eugen 16:141-146, 1951. 5. Gorlin RJ, Chandhry AP: Oral lesions accompanying pachyonychia congenita. Oral Surg 11:541-544, 1958. 6. Mullins JF, Murray N, Shapiro EM: Pachyonychia congenita: A review and new approach to treatment. Arch Dermatol Syphilol 71:265-268, 1955. 7. Garb J: Pachyonychia congenita: Regression of plantar lesions on patients wearing specially made rubber base foot molds and shoes. Arch Dermatol 62 (suppl):117-124, 1950. 8. Wright CS, Guequierre JP: Pachyonychia congenita: Report of two cases with studies on therapy. Arch Dermatol Syphilol 55:819-827, 1947.

Malignant external otitis in children.

Pachyonychia Congenita With of the Larynx Arnold M. Cohn, MD; John R. McFarlane, MD; John Knox, \s=b\ Pachyonychia congenita is a genetic syndrome...
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