Pigmentary changes in Seckel's syndrome Ahmad Fath izadeh , M.D. , K e y o u m a r s Soltani, M.D., Maria Medenica, M.D. , and

Allan L. Lor incz , M.D.

Chicago, IL

Seckel's syndrome consists of multiple congenital anomalies, including bird-headed dwarfism, mental deficiency, and skeletal and ophthalmic defects. We report a patient with this syndrome who demonstrated pigmentary changes, including streaks of brown pigmentation on the neck, groin, and axillae. Histologic examination revealed pigment incontinence. (J AM Acho DERMArOL 1:52-54, 1979.)

Seckel repor ted two pat ients with multiple con- genital anomalies , including birdtike appearance , intrauterine growth re tardat ion, and subsequent propor t ionate dwarfism and mental def ic iency? The s y n d r o m e seems to be inheri ted in an au tosomal- recess ive fashion. The skeletal abnor- malities include mic rocepha ly , beaklike nose, prominent eyes , and malar bone hypoplasia with narrow face and cleft palate. Dental defects may consis t of partial anodont ia , enamel hypoplasia , and malposi t ioned teeth. O the r skeletal abnormal- ities include hypoplas ia of the proximal ends o f the radius and fibula, dis locat ion o f the hip, spina bifida, and kyphoscol ios is . The hands may show simian creases , c l inodacty ly o f the fifth fingers, and absence o f phalangeal epiphyses . Strabismus, ear deformit ies , pu lmonary hemosiderosis , pan- cytopenic hypersp len ism, and p rematu re senility also have been repor ted in some patients. ~-5 The occasional cu taneous fea tures m a y include sparse and p remature ly gray hair and skin a t rophy. 5'8 Some brown and white macules have been noted in a Japanese infant with this syndrome. 5

In the present communica t ion , we repor t a patient with Secke l ' s synd rome who demonst ra ted pigmentary c h a n g e s - - a rare finding in this syn- drome.

From the Section of Dermatology, Department of Medicine, The Pritzker School of Medicine of The University of Chicago.

Reprint requests to: Dr. K. Soltani, 950 E. 59th St., Box 409, Chicago, IL 60637.

52

CASE REPORT

An 11-year-old white girl was referred to the Derma- tology Clinic of the University of Chicago because of unusual skin pigmentation. She was the only child of the family and the product of a full-term, uneventful pregnancy and delivery. The parents were unrelated and gave no history of congenital anomalies in their families. She weighed 2.25 kg at birth and remained well below average in weight and development thereafter. She tin- derwent surgical corrections for cleft palate in infancy and for an ostium secondum type of atrial septal defect at the age of 5, at which time a thorough workup did not show any endocrine deficiencies or chromosomal anomalies.

Examination revealed proportionate dwarfism with significant growth and developmental retardation, mi- crocephaly, prominent eyes, mild strabismus, beaklike nose, thin lips (Fig. 1), receding mandible and mal- formed teeth, bilateral clinodactyly of the fifth fingers, and severe mental retardation. The skin showed bilat- erally symmetrical streaks of brown pigmentation on the neck, groin, and axillae (Fig. 2). A punch biopsy speci- men from the pigmented skin demonstrated thinning of the epidermis, minimal perivascular lymphohistiocytic infiltration, and incontinence of melanin pigment with numerous macrophages in the papillary dermis (Fig. 3). Electron microscopic preparations of a similar specimen also showed the melanin-laden macrophages in the upper dermis.

COMMENTS

We consider the cutaneous changes in this patient to be a part of Seckel 's syndrome. These pigmentary changes resemble the findings in the third stage of incontinentia pigmenti of Bloch and

0190-9622/79/010052+03500.30/0 �9 1979 Am Acad Dermatol

Volume 1 Number 1 July, 1979

Seckel's syndrome 53

Fig. 1. Facial features of the patient with bird-headed dwarfism. Note the beaklike nose, malar and mandibular hypoplasia, and thin lips.

Fig. 2. Pigmentary changes of the axillary skin.

Fig. 3. Histologic features of a hyperpigmented macule. Note the melanin pigment incon- tinence and increased number of macrophages in the papillary dermis. (Hematoxylin-eosin stain; original magnification, x400.)

54 Fath i zadeh et al Journal of the

American Academy of Dermatology

Sulzberger . r'8 H o w e v e r , low b i r th weight and sub- sequen t p r o p o r t i o n a t e dwarf i sm are not among the clinical findings in incont inen t ia pigmenti . Secke l ' s s y n d r o m e is p r o b a b l y inher i ted in an au tosomal - dominan t gene , usual ly lethal in the male , or by a sex- l inked gene carr ied on the X c h r o m o s o m e . Thus , the coex i s t ence o f these two excess ive ly rare s y n d r o m e s wi th different pa t te rns of inheri- t ance seems unlikely.

B i rd -headed dwarf ism can be the present ing fea- ture of R o t h m u n d - T h o m p s o n synd rome , W e r n e r ' s synd rome , Ha l l e rmann-S t re i f f syndrome, pro- geria, C o e k a y n e ' s synd rome , and B l o o m ' s syn- d r o m e P ,~,s,10 R o t h m u n d - T h o m p s o n s y n d r o m e can be ruled ou t by the a b s e n c e o f light sensi t ivi ty , e r y t h e m a o f cheeks , hands , and feet, and the ab- sence of po ik i loderma . 6 The absence of ca tarac ts and sc l e rode rmoid changes of the f ace and ex- t remit ies can rule out W e r n e r ' s syndrome. TM The absence of ca t a r ac t s and mic roph tha lmia excludes Ha l l e rmann-S t re i f f s y n d r o m e ? Pat ients with pro- geria have no rma l a p p e a r a n c e in the first year of life and p rog re s s ive ly deve lop a senile appea rance , with dry, wr ink led skin. 5 Pa t ien ts with C o c k a y n e ' s s y n d r o m e a lso look no rma l in the first year of life, only to deve lop sun sens i t iv i ty , butterfly rash, retinal degenera t ion , c a t a r ac t s , and dispropor- t ionate dwarf ism, s Final ly , B l o o m ' s s y n d r o m e can be ruled out b e c a u s e these pat ients have normal intelligence, a c c o m p a n i e d b y sun sensit ivity and facial e ry thema .

REFERENCES

1. SeckeI HPG: Bird-headed dwarfs. Basel, 1960, S. Karger AG,

2. Nasr H, Nazarian [, Fathizadeh A: A case of bird-headed dwarfism associated with pulmonary hemosiderosis. Pahlavi Med J 5:722-734, 1974.

3. Harper RG, Orti E, Baker RK: Bird-headed dwarfs (Seckel's syndrome). J Pediatr 70:799-804, 1967.

4. MeKusick VA, Mahloudji M, Abbott MH, et al: Seckel's bird-headed dwarfism. N Engl J Med 277:279-286, 1967.

5. Rook A, Wilkinson DS, Ebling FJG: Textbook of dermatol- ogy. Oxford, 1972, Blackwell Scientific Publications.

6. Fitch N, Pinsky L, Lachance RC: A form of bird-headed dwarfism with features of premature senility. Am J Dis Childhood 120:260-264, 1970.

7. Carney RG, Carney RG, Jr: Incontinentia pigmenti. Arch Dermatol 102:157-162, 1970.

8. Carney RG: Incontinentia pigmenti. A world statistical analysis. Arch Dermatol 112:535-542, 1976.

9. Francois J: A new syndrome. Dyscephalia with bird-face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia and congenital cataract. Arch Ophthalmol 60:842-862, 1958.

10. Reed R, Seville RH, Tattersall RN: Werner's syndrome. Br J Dermatol 65:165-178, 1953. �9